A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.
A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.
An abnormal hemoglobin that results from the substitution of lysine for glutamic acid at position 26 of the beta chain. It is most frequently observed in southeast Asian populations.
A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.
The major component of hemoglobin in the fetus. This HEMOGLOBIN has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by LEUKEMIA and several types of ANEMIA.
A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
An adult hemoglobin component normally present in hemolysates from human erythrocytes in concentrations of about 3%. The hemoglobin is composed of two alpha chains and two delta chains. The percentage of HbA2 varies in some hematologic disorders, but is about double in beta-thalassemia.
Members of the alpha-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 16. They include zeta-globin and alpha-globin. There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the cluster. Adult HEMOGLOBIN is comprised of 2 alpha-globin chains and 2 beta-globin chains.
Therapy of heavy metal poisoning using agents which sequester the metal from organs or tissues and bind it firmly within the ring structure of a new compound which can be eliminated from the body.
A group of abnormal hemoglobins with similar electrophoretic characteristics. They have faster electrophoretic mobility and different amino acid substitutions in either the alpha or beta chains than normal adult hemoglobin. Some of the variants produce hematologic abnormalities, others result in no clinical disorders.
I'm sorry for any confusion, but "Sicily" is not a medical term that has a definition in the field of medicine. Sicily is actually the largest island in the Mediterranean Sea and it is located off the southern coast of Italy. If you have any questions related to medical terminology or health-related topics, I would be happy to help!
The great peninsula of southwest Asia comprising most of the present countries of the Middle East. It has been known since the first millennium B.C. In early times it was divided into Arabia Petraea, the northwest part, the only part ever conquered, becoming a Roman province; Arabia Deserta, the northern part between Syria and Mesopotamia; and Arabia Felix, the main part of the peninsula but by some geographers restricted to modern Yemen. (From Webster's New Geographical Dictionary, 1988, p63)
Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.
Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.
An excessive accumulation of iron in the body due to a greater than normal absorption of iron from the gastrointestinal tract or from parenteral injection. This may arise from idiopathic hemochromatosis, excessive iron intake, chronic alcoholism, certain types of refractory anemia, or transfusional hemosiderosis. (From Churchill's Illustrated Medical Dictionary, 1989)
Measurement of hemoglobin concentration in blood.
Oxygen-carrying RED BLOOD CELLS in mammalian blood that are abnormal in structure or function.
The introduction of whole blood or blood component directly into the blood stream. (Dorland, 27th ed)
A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.
An individual in which both alleles at a given locus are identical.
The oxygen-carrying proteins of ERYTHROCYTES. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements.
The number of RED BLOOD CELLS per unit volume in a sample of venous BLOOD.
ERYTHROCYTE size and HEMOGLOBIN content or concentration, usually derived from ERYTHROCYTE COUNT; BLOOD hemoglobin concentration; and HEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC).
Identification of genetic carriers for a given trait.
Immature ERYTHROCYTES. In humans, these are ERYTHROID CELLS that have just undergone extrusion of their CELL NUCLEUS. They still contain some organelles that gradually decrease in number as the cells mature. RIBOSOMES are last to disappear. Certain staining techniques cause components of the ribosomes to precipitate into characteristic "reticulum" (not the same as the ENDOPLASMIC RETICULUM), hence the name reticulocytes.
The production of red blood cells (ERYTHROCYTES). In humans, erythrocytes are produced by the YOLK SAC in the first trimester; by the liver in the second trimester; by the BONE MARROW in the third trimester and after birth. In normal individuals, the erythrocyte count in the peripheral blood remains relatively constant implying a balance between the rate of erythrocyte production and rate of destruction.
Iron-containing proteins that are widely distributed in animals, plants, and microorganisms. Their major function is to store IRON in a nontoxic bioavailable form. Each ferritin molecule consists of ferric iron in a hollow protein shell (APOFERRITINS) made of 24 subunits of various sequences depending on the species and tissue types.
Organic chemicals that form two or more coordination links with an iron ion. Once coordination has occurred, the complex formed is called a chelate. The iron-binding porphyrin group of hemoglobin is an example of a metal chelate found in biological systems.
Surgical procedure involving either partial or entire removal of the spleen.
An individual having different alleles at one or more loci regarding a specific character.
Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.
The semi-permeable outer structure of a red blood cell. It is known as a red cell 'ghost' after HEMOLYSIS.
Natural product isolated from Streptomyces pilosus. It forms iron complexes and is used as a chelating agent, particularly in the mesylate form.
A glycoprotein enzyme present in various organs and in many cells. The enzyme catalyzes the hydrolysis of a 5'-ribonucleotide to a ribonucleoside and orthophosphate in the presence of water. It is cation-dependent and exists in a membrane-bound and soluble form. EC 3.1.3.5.
Pyridine derivatives with one or more keto groups on the ring.
An interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein. Proteolytic processing of the precursor form by CASPASE 1 results in release of the active form of interleukin-1beta from the membrane.
Members of the beta-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 11. They include epsilon-globin, gamma-globin, delta-globin and beta-globin. There is also a pseudogene of beta (theta-beta) in the gene cluster. Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
An abnormal hemoglobin composed of four beta chains. It is caused by the reduced synthesis of the alpha chain. This abnormality results in ALPHA-THALASSEMIA.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
An 11-kDa protein associated with the outer membrane of many cells including lymphocytes. It is the small subunit of the MHC class I molecule. Association with beta 2-microglobulin is generally required for the transport of class I heavy chains from the endoplasmic reticulum to the cell surface. Beta 2-microglobulin is present in small amounts in serum, csf, and urine of normal people, and to a much greater degree in the urine and plasma of patients with tubular proteinemia, renal failure, or kidney transplants.
A metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN.
The transference of BONE MARROW from one human or animal to another for a variety of purposes including HEMATOPOIETIC STEM CELL TRANSPLANTATION or MESENCHYMAL STEM CELL TRANSPLANTATION.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
I'm sorry for any confusion, but "India" is not a medical term that can be defined in a medical context. It is a geographical location, referring to the Republic of India, a country in South Asia. If you have any questions related to medical topics or definitions, I would be happy to help with those!
The condition of being heterozygous for hemoglobin S.
One of two major pharmacologically defined classes of adrenergic receptors. The beta adrenergic receptors play an important role in regulating CARDIAC MUSCLE contraction, SMOOTH MUSCLE relaxation, and GLYCOGENOLYSIS.
An integrin beta subunit of approximately 85-kDa in size which has been found in INTEGRIN ALPHAIIB-containing and INTEGRIN ALPHAV-containing heterodimers. Integrin beta3 occurs as three alternatively spliced isoforms, designated beta3A-C.
Conditions in which there is a generalized increase in the iron stores of body tissues, particularly of liver and the MONONUCLEAR PHAGOCYTE SYSTEM, without demonstrable tissue damage. The name refers to the presence of stainable iron in the tissue in the form of hemosiderin.
A hereditary disorder characterized by reduced or absent DELTA-GLOBIN thus effecting the level of HEMOGLOBIN A2, a minor component of adult hemoglobin monitored in the diagnosis of BETA-THALASSEMIA.
An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia.
A factor synthesized in a wide variety of tissues. It acts synergistically with TGF-alpha in inducing phenotypic transformation and can also act as a negative autocrine growth factor. TGF-beta has a potential role in embryonal development, cellular differentiation, hormone secretion, and immune function. TGF-beta is found mostly as homodimer forms of separate gene products TGF-beta1, TGF-beta2 or TGF-beta3. Heterodimers composed of TGF-beta1 and 2 (TGF-beta1.2) or of TGF-beta2 and 3 (TGF-beta2.3) have been isolated. The TGF-beta proteins are synthesized as precursor proteins.
Anemia characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte, i.e., the mean corpuscular hemoglobin concentration is less than normal. The individual cells contain less hemoglobin than they could have under optimal conditions. Hypochromic anemia may be caused by iron deficiency from a low iron intake, diminished iron absorption, or excessive iron loss. It can also be caused by infections or other diseases, therapeutic drugs, lead poisoning, and other conditions. (Stedman, 25th ed; from Miale, Laboratory Medicine: Hematology, 6th ed, p393)
RED BLOOD CELL sensitivity to change in OSMOTIC PRESSURE. When exposed to a hypotonic concentration of sodium in a solution, red cells take in more water, swell until the capacity of the cell membrane is exceeded, and burst.
A commonly occurring abnormal hemoglobin in which lysine replaces a glutamic acid residue at the sixth position of the beta chains. It results in reduced plasticity of erythrocytes.
The formation and development of blood cells outside the BONE MARROW, as in the SPLEEN; LIVER; or LYMPH NODES.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
An integrin found in FIBROBLASTS; PLATELETS; MONOCYTES, and LYMPHOCYTES. Integrin alpha5beta1 is the classical receptor for FIBRONECTIN, but it also functions as a receptor for LAMININ and several other EXTRACELLULAR MATRIX PROTEINS.
Also known as CD104 antigen, this protein is distinguished from other beta integrins by its relatively long cytoplasmic domain (approximately 1000 amino acids vs. approximately 50). Five alternatively spliced isoforms have been described.
I'm sorry for any confusion, but "Italy" is not a medical term or concept, it's a country located in Southern Europe. If you have any questions related to medical topics, I'd be happy to help with those!
This intrgrin is a key component of HEMIDESMOSOMES and is required for their formation and maintenance in epithelial cells. Integrin alpha6beta4 is also found on thymocytes, fibroblasts, and Schwann cells, where it functions as a laminin receptor (RECEPTORS, LAMININ) and is involved in wound healing, cell migration, and tumor invasiveness.
A member of the beta-globin family. In humans, delta-globin is encoded in the beta-globin gene cluster located on CHROMOSOME 11. Two delta-globin chains along with two alpha-globin chains form HEMOGLOBIN A2 which makes up about 3% of the HEMOGLOBIN in adults.
Integrin beta chains combine with integrin alpha chains to form heterodimeric cell surface receptors. Integrins have traditionally been classified into functional groups based on the identity of one of three beta chains present in the heterodimer. The beta chain is necessary and sufficient for integrin-dependent signaling. Its short cytoplasmic tail contains sequences critical for inside-out signaling.
Derivatives of BENZOIC ACID. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the carboxybenzene structure.
A 44-kDa highly glycosylated plasma protein that binds phospholipids including CARDIOLIPIN; APOLIPOPROTEIN E RECEPTOR; membrane phospholipids, and other anionic phospholipid-containing moieties. It plays a role in coagulation and apoptotic processes. Formerly known as apolipoprotein H, it is an autoantigen in patients with ANTIPHOSPHOLIPID ANTIBODIES.
The senescence of RED BLOOD CELLS. Lacking the organelles that make protein synthesis possible, the mature erythrocyte is incapable of self-repair, reproduction, and carrying out certain functions performed by other cells. This limits the average life span of an erythrocyte to 120 days.
The research and development of ELECTRICAL EQUIPMENT AND SUPPLIES for such medical applications as diagnosis, therapy, research, anesthesia control, cardiac control, and surgery. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
Integrin alpha4beta1 is a FIBRONECTIN and VCAM-1 receptor present on LYMPHOCYTES; MONOCYTES; EOSINOPHILS; NK CELLS and thymocytes. It is involved in both cell-cell and cell- EXTRACELLULAR MATRIX adhesion and plays a role in INFLAMMATION, hematopoietic cell homing and immune function, and has been implicated in skeletal MYOGENESIS; NEURAL CREST migration and proliferation, lymphocyte maturation and morphogenesis of the PLACENTA and HEART.
A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.
A disease characterized by compensated hemolysis with a normal hemoglobin level or a mild to moderate anemia. There may be intermittent abdominal discomfort, splenomegaly, and slight jaundice.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia.
The collective name for the islands of the Pacific Ocean northeast of Australia, including NEW CALEDONIA; VANUATU; New Hebrides, Solomon Islands, Admiralty Islands, Bismarck Archipelago, FIJI, etc. Melanesia (from the Greek melas, black + nesos, island) is so called from the black color of the natives who are generally considered to be descended originally from the Negroid Papuans and the Polynesians or Malays. (From Webster's New Geographical Dictionary, 1988, p748 & Room, Brewer's Dictionary of Names, 1992, p344)
An integrin found on fibroblasts, platelets, endothelial and epithelial cells, and lymphocytes where it functions as a receptor for COLLAGEN and LAMININ. Although originally referred to as the collagen receptor, it is one of several receptors for collagen. Ligand binding to integrin alpha2beta1 triggers a cascade of intracellular signaling, including activation of p38 MAP kinase.
A subclass of beta-adrenergic receptors (RECEPTORS, ADRENERGIC, BETA). The adrenergic beta-2 receptors are more sensitive to EPINEPHRINE than to NOREPINEPHRINE and have a high affinity for the agonist TERBUTALINE. They are widespread, with clinically important roles in SKELETAL MUSCLE; LIVER; and vascular, bronchial, gastrointestinal, and genitourinary SMOOTH MUSCLE.

A prospective study on TT virus infection in transfusion-dependent patients with beta-thalassemia. (1/842)

A novel DNA virus designated TT virus (TTV) has been reported to be involved in the development of posttransfusion non-A-C hepatitis. We evaluated the frequency and natural course of TTV infection in a cohort of transfusion-dependent thalassemic patients in a 3-year follow-up study. Ninety-three serum hepatitis C virus (HCV) antibody-negative patients (median age of 8 years; range, 0 to 25) from eight centers were studied. Of them, 34 (37%) had an abnormal alanine-aminotransferase (ALT) baseline pattern, and the other 12 (13%) showed ALT flare-ups during the follow-up. TTV DNA in patient sera collected at the time of enrollment and at the end of follow-up was determined by polymerase chain reaction (PCR). In parallel, serum samples from 100 healthy blood donors were also tested. At baseline, 87 patient sera (93.5%) tested positive for the TTV DNA. Of these TTV DNA-positive patients, 84 (96.5%) remained viremic at the end of the study period. Of the 6 TTV DNA-negative patients, 3 acquired TTV infection during follow-up. However, no definite relation was observed between the results of TTV DNA determination and ALT patterns. TTV viremia was also detectable in 22% of blood donors. In conclusion, TTV infection is frequent and persistent among Italian transfusion-dependent patients. The high rate of viremia observed in healthy donors indicates that the parenteral route is not the only mode of TTV spread.  (+info)

Development of viral vectors for gene therapy of beta-chain hemoglobinopathies: optimization of a gamma-globin gene expression cassette. (2/842)

Progress toward gene therapy of beta-chain hemoglobinopathies has been limited in part by poor expression of globin genes in virus vectors. To derive an optimal expression cassette, we systematically analyzed the sequence requirements and relative strengths of the Agamma- and beta-globin promoters, the activities of various erythroid-specific enhancers, and the importance of flanking and intronic sequences. Expression was analyzed by RNase protection after stable plasmid transfection of the murine erythroleukemia cell line, MEL585. Promoter truncation studies showed that the Agamma-globin promoter could be deleted to -159 without affecting expression, while deleting the beta-globin promoter to -127 actually increased expression compared with longer fragments. Expression from the optimal beta-globin gene promoter was consistently higher than that from the optimal Agamma-globin promoter, regardless of the enhancer used. Enhancers tested included a 2.5-kb composite of the beta-globin locus control region (termed a muLCR), a combination of the HS2 and HS3 core elements of the LCR, and the HS-40 core element of the alpha-globin locus. All three enhancers increased expression from the beta-globin gene to roughly the same extent, while the HS-40 element was notably less effective with the Agamma-globin gene. However, the HS-40 element was able to efficiently enhance expression of a Agamma-globin gene linked to the beta-globin promoter. Inclusion of extended 3' sequences from either the beta-globin or the Agamma-globin genes had no significant effect on expression. A 714-bp internal deletion of Agamma-globin intron 2 unexpectedly increased expression more than twofold. With the combination of a -127 beta-globin promoter, an Agamma-globin gene with the internal deletion of intron 2, and a single copy of the HS-40 enhancer, gamma-globin expression averaged 166% of murine alpha-globin mRNA per copy in six pools and 105% in nine clones. When placed in a retrovirus vector, this cassette was also expressed at high levels in MEL585 cells (averaging 75% of murine alpha-globin mRNA per copy) without reducing virus titers. However, recombined provirus or aberrant splicing was observed in 5 of 12 clones, indicating a significant degree of genetic instability. Taken together, these data demonstrate the development of an optimal expression cassette for gamma-globin capable of efficient expression in a retrovirus vector and form the basis for further refinement of vectors containing this cassette.  (+info)

Co-inherited Gilbert's syndrome: a factor determining hyperbilirubinemia in homozygous beta-thalassemia. (3/842)

BACKGROUND AND OBJECTIVE: Patients with thalassemia major and intermedia show a marked variability of serum indirect bilirubin levels. In this paper we tested the hypothesis related to the variability of the glucuronidation bilirubin rate which depends on the configuration of the A(TA)nTAA motif of the UGT1*1 glucuronosyltransferase gene promoter. DESIGN AND METHODS: We studied the configuration of the A(TA)nTAA motif in 26 patients with thalassemia major and 34 with thalassemia intermedia. RESULTS: In patients with thalassemia major and in those with thalassemia intermedia significantly higher bilirubin levels were found in patients with the (TA)7/(TA)7 genotype, than in those with the (TA)7/(TA)6 or (TA)6/(TA)6 genotype. INTERPRETATION AND CONCLUSIONS: These results indicate that the (TA)7/(TA)7 genotype, the configuration found in patients with Gilbert's syndrome, is capable of modifying the clinical phenotype of homozygous beta-thalassemia. This is an example of the role played by co-inherited modifying gene(s) on the extent of clinical heterogeneity of monogenic disorders.  (+info)

Busulphan level and early mortality in thalassaemia patients after BMT. (4/842)

The aim of the study was to correlate busulphan (BU) levels of thalassaemia patients with outcome of allogeneic transplant. BU levels were measured by gas chromatography mass fragmentography. All patients received a standardised dose of BU 16 mg/kg, and cyclophosphamide 150 or 200 mg/kg. For area-under-the-curve analysis (AUC), blood samples were obtained at 0, 1, 2, 3, 4 and 6 h after the first and fifth dose for all patients, and additional levels were measured after ninth and/or 13th dose in most patients. Outcome parameters examined included veno-occlusive disease of liver (VOD), idiopathic interstitial pneumonitis, chimerism, and day 90 survival. Twenty consecutive thalassaemia patients who underwent haematopoietic stem cell transplantation were studied. The median age at transplant was 11.2 years (range 3-21 years). Mean BU AUC levels were correlated with age at transplant (r = 0.58, P = 0.007). Nine patients developed VOD and six had mixed chimerism, but these did not correlate with mean BU AUC level. Four patients died before day 50 from VOD and interstitial pneumonitis. Patients with BU AUC levels greater than the median (908 micromol x min/l) had significantly lower probability of survival at day 90 (60%), whereas patients with BU AUC level less than the median all survived beyond day 90. No patient had graft rejection. In conclusion, a high BU AUC level was associated with a higher treatment-related mortality in thalassaemia patients after transplant.  (+info)

A complex haemoglobinopathy diagnosis in a family with both beta zero- and alpha (zero/+)-thalassaemia homozygosity. (5/842)

The occurrence of point mutation alpha-thalassaemia and of complex combinations of haemoglobin defects is underestimated. Haemoglobinopathies, the most frequent monogenic recessive autosomal disorder in man, occur predominantly in Mediterranean, African and Asiatic populations. However, countries of immigration with a low incidence in the indigenous population, are now confronted with a highly heterogeneous array of imported defects. Furthermore, the occurrence of severe phenotypes is bound to increase in the near future because of the endogamous growth of the ethnical minorities and the lack of prevention. We describe an Afghan family in which both partners of a consanguineous relationship are carriers of a beta- as well as an alpha-thalassaemia determinant. The combination of defects was revealed by the in vitro measurement of the beta/alpha biosynthetic ratio and was characterised at the DNA level. The molecular defects involved are the Cd5(-CT), a Mediterranean beta zero-thalassaemia mutation, and the alpha 2(zero/+)-thalassaemia AATA(-AA) polyadenylation defect. The alpha-thalassemia defect is a rare RNA-processing mutant described only twice before in heterozygous form in Asian-Indian patients. The mutation suppresses the expression of a alpha 2 gene and reduces the expression of the less efficient, 3' located alpha 1 gene as well, inducing a near alpha zero-thalassaemia phenotype. This defect is now described for the first time in the homozygous condition in one of the children who, in addition to being homozygous for the alpha-thalassaemia point mutation, is also a carrier of the beta zero-thalassaemia defect. A previously described homozygous case of the alpha (zero/+)-thalassaemia condition, caused by a similar polyadenylation defect, was characterised by a severe HbH disease. However, the patient described here present at 7 years of age with severe caries, like his beta-thalassaemia homozygous brother but without hepatosplenomegaly, haemolysis or severe anaemia. The haematological analysis revealed 9.5 g/dl Hb; 5.4 x 10(12)/I RBC; 0.33 I/I PCV; 61 fl MCV; 17.6 pg MCH and 6.2% of HbA2. The biosynthetic ratio beta:alpha was 1.6 and no HbH fraction was detectable either on electrophoresis or as inclusion bodies. The parents reported no complications during pregnancy, at birth, or in the neonatal period in rural Afghanistan. We presume therefore that the counterbalancing effect induced by the co-existing beta-thalassaemia defect could have modified a potentially severe perinatal HbH disease into a strongly hypochromic but well compensated 'alpha zero-like heterozygous' thalassaemia phenotype. The risk of a severe HbH disease, could have been easily missed in this family which was referred because of a child affected with beta-thalassaemia major.  (+info)

Impairment of Plasmodium falciparum growth in thalassemic red blood cells: further evidence by using biotin labeling and flow cytometry. (6/842)

Certain red blood cell (RBC) disorders, including thalassemia, have been associated with an innate protection against malaria infection. However, many in vitro correlative studies have been inconclusive. To better understand the relationship between human RBCs with thalassemia hemoglobinopathies and susceptibility to in vitro infection, we used an in vitro coculture system that involved biotin labeling and flow cytometry to study the ability of normal and variant RBC populations in supporting the growth of Plasmodium falciparum malaria parasites. Results showed that both normal and thalassemic RBCs were susceptible to P falciparum invasion, but the parasite multiplication rates were significantly reduced in the thalassemic RBC populations. The growth inhibition was especially marked in RBCs from alpha-thalassemia patients (both alpha-thalassemia1/alpha-thalassemia2 and alpha-thalassemia1 heterozygote). Our observations support the contention that thalassemia confers protection against malaria and may explain why it is more prevalent in malaria endemic areas.  (+info)

Immunological analysis of beta-thalassemic mouse intestinal proteins reveals up-regulation of sucrase-isomaltase in response to iron overload. (7/842)

Maintenance of iron homeostasis must balance the demand for iron due to heme synthesis, which is driven by hematopoiesis, and the restricted intestinal uptake of iron, which otherwise limits absorption of this toxic element. The consequences of perturbed iron homeostasis are witnessed in inherited forms of beta-thalassemia in which erythroid hyperplasia results in enhanced intestinal iron absorption despite tissue iron overload. To gain a better understanding of intestinal factors that are induced when iron homeostasis is disrupted, a panel of monoclonal antibodies that recognize intestinal microvillous membrane proteins of the beta-thalassemic Hbbd(th3)/Hbbd(th3) mouse was established. The monoclonal antibodies were screened by differential Western blotting against normal and beta-thalassemic mouse intestine to identify antigens modulated in the disease state. Here we report the initial characterization of one immunoreactive species that is up-regulated in beta-thalassemic mouse intestine and the tentative identification of this antigen as sucrase-isomaltase. Studies in Caco-2 cells revealed the rather unexpected finding that expression of this intestinal hydrolase is increased in response to iron toxicity.  (+info)

Successful non-invasive ventilatory support in a patient with regimen-related toxicity during allogeneic bone marrow transplantation. (8/842)

A 13-year-old patient with transfusion-dependent beta thalassemia major developed acute regimen-related lung toxicity after the conditioning regimen but before allogeneic bone marrow transplantation. He was successfully managed on non-invasive ventilatory support. Advances in non-invasive ventilatory support may drastically improve the outlook of this subset of patients who otherwise have a grim prognosis.  (+info)

Thalassemia is a group of inherited genetic disorders that affect the production of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. The disorder results in less efficient or abnormal hemoglobin, which can lead to anemia, an insufficient supply of oxygen-rich red blood cells.

There are two main types of Thalassemia: alpha and beta. Alpha thalassemia occurs when there is a problem with the alpha globin chain production, while beta thalassemia results from issues in beta globin chain synthesis. These disorders can range from mild to severe, depending on the number of genes affected and their specific mutations.

Severe forms of Thalassemia may require regular blood transfusions, iron chelation therapy, or even a bone marrow transplant to manage symptoms and prevent complications.

Beta-thalassemia is a genetic blood disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. Specifically, beta-thalassemia is caused by mutations in the beta-globin gene, which leads to reduced or absent production of the beta-globin component of hemoglobin.

There are two main types of beta-thalassemia:

1. Beta-thalassemia major (also known as Cooley's anemia): This is a severe form of the disorder that typically becomes apparent in early childhood. It is characterized by a significant reduction or absence of beta-globin production, leading to anemia, enlarged spleen and liver, jaundice, and growth retardation.
2. Beta-thalassemia intermedia: This is a milder form of the disorder that may not become apparent until later in childhood or even adulthood. It is characterized by a variable reduction in beta-globin production, leading to mild to moderate anemia and other symptoms that can range from nonexistent to severe.

Treatment for beta-thalassemia depends on the severity of the disorder and may include blood transfusions, iron chelation therapy, and/or bone marrow transplantation. In some cases, genetic counseling and prenatal diagnosis may also be recommended for families with a history of the disorder.

Hemoglobin E (HbE) is a structural variant of hemoglobin, which is the oxygen-carrying protein in red blood cells. This variant results from a specific mutation in the beta-globin gene, leading to the substitution of glutamic acid with lysine at position 26 of the beta-globin chain.

HbE is most commonly found in people from Southeast Asia, particularly in populations from Thailand, Cambodia, and Laos. It can also be found in other parts of the world, such as India, Bangladesh, and Pakistan. HbE is usually asymptomatic when it occurs in its heterozygous form (one normal beta-globin gene and one HbE gene). However, when it occurs in the homozygous form (two HbE genes), or in combination with other hemoglobinopathies like thalassemia, it can lead to a range of clinical manifestations, including mild to severe microcytic anemia, splenomegaly, and jaundice.

Individuals with HbE may have increased susceptibility to certain infections and may experience complications during pregnancy or surgery due to impaired oxygen-carrying capacity. Regular monitoring of hemoglobin levels, iron status, and potential complications is essential for managing individuals with Hemoglobin E effectively.

Alpha-thalassemia is a genetic disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. It is caused by deletions or mutations in the genes that produce the alpha-globin chains of hemoglobin.

There are several types of alpha-thalassemia, ranging from mild to severe. The most severe form, called hydrops fetalis, occurs when all four alpha-globin genes are deleted or mutated. This can cause stillbirth or death shortly after birth due to heart failure and severe anemia.

Less severe forms of alpha-thalassemia can cause mild to moderate anemia, which may be asymptomatic or associated with symptoms such as fatigue, weakness, and jaundice. These forms of the disorder are more common in people from Mediterranean, Southeast Asian, and African backgrounds.

Treatment for alpha-thalassemia depends on the severity of the condition and may include blood transfusions, iron chelation therapy, or occasionally stem cell transplantation.

Fetal hemoglobin (HbF) is a type of hemoglobin that is produced in the fetus and newborn babies. It is composed of two alpha-like globin chains and two gamma-globin chains, designated as α2γ2. HbF is the primary form of hemoglobin during fetal development, replacing the embryonic hemoglobin (HbG) around the eighth week of gestation.

The unique property of HbF is its higher affinity for oxygen compared to adult hemoglobin (HbA), which helps ensure adequate oxygen supply from the mother to the developing fetus. After birth, as the newborn starts breathing on its own and begins to receive oxygen directly, the production of HbF gradually decreases and is usually replaced by HbA within the first year of life.

In some genetic disorders like sickle cell disease and beta-thalassemia, persistence of HbF into adulthood can be beneficial as it reduces the severity of symptoms due to its higher oxygen-carrying capacity and less polymerization tendency compared to HbS (in sickle cell disease) or unpaired alpha chains (in beta-thalassemia). Treatments like hydroxyurea are used to induce HbF production in these patients as a therapeutic approach.

Globins are a group of proteins that contain a heme prosthetic group, which binds and transports oxygen in the blood. The most well-known globin is hemoglobin, which is found in red blood cells and is responsible for carrying oxygen from the lungs to the body's tissues. Other members of the globin family include myoglobin, which is found in muscle tissue and stores oxygen, and neuroglobin and cytoglobin, which are found in the brain and other organs and may have roles in protecting against oxidative stress and hypoxia (low oxygen levels). Globins share a similar structure, with a folded protein surrounding a central heme group. Mutations in globin genes can lead to various diseases, such as sickle cell anemia and thalassemia.

Hemoglobinopathies are a group of genetic disorders characterized by structural or functional abnormalities of the hemoglobin molecule in red blood cells. Hemoglobin is a complex protein that plays a crucial role in carrying oxygen throughout the body. The two most common types of hemoglobinopathies are sickle cell disease and thalassemia.

In sickle cell disease, a single mutation in the beta-globin gene results in the production of an abnormal form of hemoglobin called hemoglobin S (HbS). When deoxygenated, HbS molecules tend to aggregate and form long polymers, causing the red blood cells to become sickle-shaped, rigid, and fragile. These abnormally shaped cells can block small blood vessels, leading to tissue damage, chronic pain, organ dysfunction, and other serious complications.

Thalassemias are a heterogeneous group of disorders caused by mutations in the genes that regulate the production of alpha- or beta-globin chains. These mutations result in reduced or absent synthesis of one or more globin chains, leading to an imbalance in hemoglobin composition and structure. This imbalance can cause premature destruction of red blood cells (hemolysis), resulting in anemia, jaundice, splenomegaly, and other symptoms.

Hemoglobinopathies are typically inherited in an autosomal recessive manner, meaning that affected individuals have two copies of the abnormal gene – one from each parent. Carriers of a single abnormal gene usually do not show any signs or symptoms of the disorder but can pass the abnormal gene on to their offspring.

Early diagnosis and appropriate management of hemoglobinopathies are essential for improving quality of life, reducing complications, and increasing survival rates. Treatment options may include blood transfusions, iron chelation therapy, antibiotics, pain management, and, in some cases, bone marrow transplantation or gene therapy.

Hemoglobin A2 is a type of hemoglobin that is found in human red blood cells. Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. Hemoglobin A2 is made up of two alpha-like globin chains and two delta-globin chains, and it accounts for approximately 1.5 to 3.5% of the total hemoglobin in adult humans.

Hemoglobin A2 is not normally present in significant amounts until after a child has passed through their first year of life. Its level remains relatively constant throughout adulthood, and it is often used as a diagnostic marker for certain types of anemia, such as beta-thalassemia. In people with beta-thalassemia, the production of beta-globin chains is reduced or absent, leading to an increase in the relative proportion of Hemoglobin A2 and Hemoglobin F (fetal hemoglobin) in the red blood cells.

It's important to note that Hemoglobin A2 measurement alone is not enough for a definitive diagnosis of beta-thalassemia, but it can be used as a supportive test along with other investigations such as complete blood count (CBC), hemoglobin electrophoresis and molecular genetic testing.

Alpha-globins are a type of globin protein that combine to form the alpha-globin chains of hemoglobin, the oxygen-carrying protein in red blood cells. Hemoglobin is composed of four globin chains, two alpha-globin chains and two beta-globin chains, that surround a heme group. The alpha-globin genes are located on chromosome 16 and are essential for normal hemoglobin function. Mutations in the alpha-globin genes can lead to various forms of hemoglobin disorders such as alpha-thalassemia.

Chelation therapy is a medical treatment that involves the use of chelating agents to remove heavy metals and minerals from the body. A chelating agent is a molecule that bonds with the metal ions, forming a stable, water-soluble complex that can be excreted through urine or stool.

The most common chelating agent used in medical settings is ethylene diamine tetraacetic acid (EDTA), which is administered intravenously. EDTA binds with metals such as lead, mercury, iron, and calcium, and helps to eliminate them from the body.

Chelation therapy is primarily used to treat heavy metal poisoning, such as lead or mercury toxicity. It may also be used in some cases to treat cardiovascular disease, although its effectiveness for this use is still a matter of debate and controversy.

It's important to note that chelation therapy should only be administered under the supervision of a qualified healthcare professional, as improper use can lead to serious side effects and complications.

Hemoglobin J is a variant form of hemoglobin, which is the oxygen-carrying protein in red blood cells. This variant is caused by a specific mutation in the gene for the beta-globin chain, one of the two types of chains that make up hemoglobin.

The mutation responsible for Hemoglobin J results in the substitution of a glutamic acid residue with a valine residue at position 6 of the beta-globin chain. This change can lead to the formation of abnormal hemoglobin molecules that can cause red blood cells to become fragile and susceptible to rupture, a condition known as hemolysis.

Hemoglobin J is typically detected during routine newborn screening or through diagnostic testing for hemoglobin disorders. While Hemoglobin J itself is not considered a disease-causing variant, individuals who inherit it in combination with other abnormal hemoglobin genes may be at risk for developing hemolytic anemia or other related conditions.

I'm sorry for any confusion, but "Sicily" is not a medical term. It is actually a large island located in the Mediterranean Sea, south of the Italian Peninsula, and it is one of the five autonomous regions of Italy. If you have any questions about medical terminology or health-related topics, I would be happy to help!

'Arabia' is a geographical term and not a medical one. It most commonly refers to the Arabian Peninsula, which is located in the southwestern corner of Asia. The region is made up of several countries including Saudi Arabia, Yemen, Oman, Qatar, Kuwait, Bahrain, and the United Arab Emirates, among others.

Arabia has a diverse climate, ranging from hot and arid deserts to coastal areas with more moderate temperatures. The region is home to a variety of cultures, languages, and religions, although Islam is the dominant religion in most parts of Arabia.

In medical contexts, 'Arabia' may be used to describe medical conditions or practices that are specific to or prevalent in the region. For example, there have been studies on the prevalence of certain genetic disorders in populations from the Arabian Peninsula. However, it is important to note that medical definitions and classifications should not rely solely on geographical location, but rather on a combination of clinical, genetic, and epidemiological factors.

Abnormal hemoglobins refer to variants of the oxygen-carrying protein found in red blood cells, which differ from the normal adult hemoglobin (HbA) in terms of their structure and function. These variations can result from genetic mutations that affect the composition of the globin chains in the hemoglobin molecule. Some abnormal hemoglobins are clinically insignificant, while others can lead to various medical conditions such as hemolytic anemia, thalassemia, or sickle cell disease. Examples of abnormal hemoglobins include HbS (associated with sickle cell anemia), HbC, HbE, and HbF (fetal hemoglobin). These variants can be detected through specialized laboratory tests, such as hemoglobin electrophoresis or high-performance liquid chromatography (HPLC).

Hemoglobin A is the most common form of hemoglobin, which is the oxygen-carrying protein in red blood cells. Hemoglobin A is a tetramer composed of two alpha and two beta globin chains, each containing a heme group that binds to oxygen. It is typically measured in laboratory tests to assess for various medical conditions such as anemia or diabetes. In the context of diabetes, the measurement of hemoglobin A1c (a form of hemoglobin A that is glycated or bound to glucose) is used to monitor long-term blood sugar control.

Iron overload is a condition characterized by an excessive accumulation of iron in the body's tissues and organs, particularly in the liver, heart, and pancreas. This occurs when the body absorbs more iron than it can use or eliminate, leading to iron levels that are higher than normal.

Iron overload can result from various factors, including hereditary hemochromatosis, a genetic disorder that affects how the body absorbs iron from food; frequent blood transfusions, which can cause iron buildup in people with certain chronic diseases such as sickle cell anemia or thalassemia; and excessive consumption of iron supplements or iron-rich foods.

Symptoms of iron overload may include fatigue, joint pain, abdominal discomfort, irregular heartbeat, and liver dysfunction. If left untreated, it can lead to serious complications such as cirrhosis, liver failure, diabetes, heart problems, and even certain types of cancer. Treatment typically involves regular phlebotomy (removal of blood) to reduce iron levels in the body, along with dietary modifications and monitoring by a healthcare professional.

Hemoglobinometry is a method used to measure the amount or concentration of hemoglobin (Hb) in blood. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. Hemoglobinometry is typically performed on a sample of whole blood and can be done using various methods, including spectrophotometry, colorimetry, or automated analyzers.

The results of hemoglobinometry are reported in units of grams per deciliter (g/dL) or grams per liter (g/L). Normal values for hemoglobin concentration vary depending on factors such as age, sex, and altitude, but in general, a healthy adult male should have a hemoglobin level between 13.5 and 17.5 g/dL, while a healthy adult female should have a level between 12.0 and 15.5 g/dL.

Hemoglobinometry is an important diagnostic tool in the evaluation of various medical conditions, including anemia, polycythemia, and respiratory disorders. It can help identify the cause of symptoms such as fatigue, shortness of breath, or dizziness and guide treatment decisions.

Abnormal erythrocytes refer to red blood cells that have an abnormal shape, size, or other characteristics. This can include various types of abnormalities such as:

1. Anisocytosis: Variation in the size of erythrocytes.
2. Poikilocytosis: Variation in the shape of erythrocytes, including but not limited to teardrop-shaped cells (dacrocytes), crescent-shaped cells (sickle cells), and spherical cells (spherocytes).
3. Anemia: A decrease in the total number of erythrocytes or a reduction in hemoglobin concentration, which can result from various underlying conditions such as iron deficiency, chronic disease, or blood loss.
4. Hemoglobinopathies: Abnormalities in the structure or function of hemoglobin, the protein responsible for carrying oxygen in erythrocytes, such as sickle cell anemia and thalassemia.
5. Inclusion bodies: Abnormal structures within erythrocytes, such as Heinz bodies (denatured hemoglobin) or Howell-Jolly bodies (nuclear remnants).

These abnormalities can be detected through a complete blood count (CBC) and peripheral blood smear examination. The presence of abnormal erythrocytes may indicate an underlying medical condition, and further evaluation is often necessary to determine the cause and appropriate treatment.

A blood transfusion is a medical procedure in which blood or its components are transferred from one individual (donor) to another (recipient) through a vein. The donated blood can be fresh whole blood, packed red blood cells, platelets, plasma, or cryoprecipitate, depending on the recipient's needs. Blood transfusions are performed to replace lost blood due to severe bleeding, treat anemia, support patients undergoing major surgeries, or manage various medical conditions such as hemophilia, thalassemia, and leukemia. The donated blood must be carefully cross-matched with the recipient's blood type to minimize the risk of transfusion reactions.

Sickle cell anemia is a genetic disorder that affects the hemoglobin in red blood cells. Hemoglobin is responsible for carrying oxygen throughout the body. In sickle cell anemia, the hemoglobin is abnormal and causes the red blood cells to take on a sickle shape, rather than the normal disc shape. These sickled cells are stiff and sticky, and they can block blood vessels, causing tissue damage and pain. They also die more quickly than normal red blood cells, leading to anemia.

People with sickle cell anemia often experience fatigue, chronic pain, and jaundice. They may also have a higher risk of infections and complications such as stroke, acute chest syndrome, and priapism. The disease is inherited from both parents, who must both be carriers of the sickle cell gene. It primarily affects people of African descent, but it can also affect people from other ethnic backgrounds.

There is no cure for sickle cell anemia, but treatments such as blood transfusions, medications to manage pain and prevent complications, and bone marrow transplantation can help improve quality of life for affected individuals. Regular medical care and monitoring are essential for managing the disease effectively.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

Hemoglobin (Hb or Hgb) is the main oxygen-carrying protein in the red blood cells, which are responsible for delivering oxygen throughout the body. It is a complex molecule made up of four globin proteins and four heme groups. Each heme group contains an iron atom that binds to one molecule of oxygen. Hemoglobin plays a crucial role in the transport of oxygen from the lungs to the body's tissues, and also helps to carry carbon dioxide back to the lungs for exhalation.

There are several types of hemoglobin present in the human body, including:

* Hemoglobin A (HbA): This is the most common type of hemoglobin, making up about 95-98% of total hemoglobin in adults. It consists of two alpha and two beta globin chains.
* Hemoglobin A2 (HbA2): This makes up about 1.5-3.5% of total hemoglobin in adults. It consists of two alpha and two delta globin chains.
* Hemoglobin F (HbF): This is the main type of hemoglobin present in fetal life, but it persists at low levels in adults. It consists of two alpha and two gamma globin chains.
* Hemoglobin S (HbS): This is an abnormal form of hemoglobin that can cause sickle cell disease when it occurs in the homozygous state (i.e., both copies of the gene are affected). It results from a single amino acid substitution in the beta globin chain.
* Hemoglobin C (HbC): This is another abnormal form of hemoglobin that can cause mild to moderate hemolytic anemia when it occurs in the homozygous state. It results from a different single amino acid substitution in the beta globin chain than HbS.

Abnormal forms of hemoglobin, such as HbS and HbC, can lead to various clinical disorders, including sickle cell disease, thalassemia, and other hemoglobinopathies.

Erythrocyte count, also known as red blood cell (RBC) count, is a laboratory test that measures the number of red blood cells in a sample of blood. Red blood cells are important because they carry oxygen from the lungs to the rest of the body. A low erythrocyte count may indicate anemia, while a high count may be a sign of certain medical conditions such as polycythemia. The normal range for erythrocyte count varies depending on a person's age, sex, and other factors.

Erythrocyte indices are a set of calculated values that provide information about the size and hemoglobin content of red blood cells (erythrocytes). These indices are commonly used in the complete blood count (CBC) test to help diagnose various types of anemia and other conditions affecting the red blood cells.

The three main erythrocyte indices are:

1. Mean Corpuscular Volume (MCV): This is the average volume of a single red blood cell, measured in femtoliters (fL). MCV helps to differentiate between microcytic, normocytic, and macrocytic anemia. Microcytic anemia is characterized by low MCV values (100 fL).
2. Mean Corpuscular Hemoglobin (MCH): This is the average amount of hemoglobin present in a single red blood cell, measured in picograms (pg). MCH helps to assess the oxygen-carrying capacity of red blood cells. Low MCH values may indicate hypochromic anemia, where the red blood cells have reduced hemoglobin content.
3. Mean Corpuscular Hemoglobin Concentration (MCHC): This is the average concentration of hemoglobin in a single red blood cell, measured as a percentage. MCHC reflects the hemoglobin concentration relative to the size of the red blood cells. Low MCHC values may indicate hypochromic anemia, while high MCHC values could suggest spherocytosis or other conditions affecting red blood cell shape and integrity.

These erythrocyte indices are calculated based on the red blood cell count, hemoglobin concentration, and hematocrit results obtained from a CBC test. They provide valuable information for healthcare professionals to diagnose and manage various hematological conditions.

Heterozygote detection is a method used in genetics to identify individuals who carry one normal and one mutated copy of a gene. These individuals are known as heterozygotes and they do not typically show symptoms of the genetic disorder associated with the mutation, but they can pass the mutated gene on to their offspring, who may then be affected.

Heterozygote detection is often used in genetic counseling and screening programs for recessive disorders such as cystic fibrosis or sickle cell anemia. By identifying heterozygotes, individuals can be informed of their carrier status and the potential risks to their offspring. This information can help them make informed decisions about family planning and reproductive options.

Various methods can be used for heterozygote detection, including polymerase chain reaction (PCR) based tests, DNA sequencing, and genetic linkage analysis. The choice of method depends on the specific gene or mutation being tested, as well as the availability and cost of the testing technology.

Reticulocytes are immature red blood cells that still contain remnants of organelles, such as ribosomes and mitochondria, which are typically found in developing cells. These organelles are involved in the process of protein synthesis and energy production, respectively. Reticulocytes are released from the bone marrow into the bloodstream, where they continue to mature into fully developed red blood cells called erythrocytes.

Reticulocytes can be identified under a microscope by their staining characteristics, which reveal a network of fine filaments or granules known as the reticular apparatus. This apparatus is composed of residual ribosomal RNA and other proteins that have not yet been completely eliminated during the maturation process.

The percentage of reticulocytes in the blood can be used as a measure of bone marrow function and erythropoiesis, or red blood cell production. An increased reticulocyte count may indicate an appropriate response to blood loss, hemolysis, or other conditions that cause anemia, while a decreased count may suggest impaired bone marrow function or a deficiency in erythropoietin, the hormone responsible for stimulating red blood cell production.

Erythropoiesis is the process of forming and developing red blood cells (erythrocytes) in the body. It occurs in the bone marrow and is regulated by the hormone erythropoietin (EPO), which is produced by the kidneys. Erythropoiesis involves the differentiation and maturation of immature red blood cell precursors called erythroblasts into mature red blood cells, which are responsible for carrying oxygen to the body's tissues. Disorders that affect erythropoiesis can lead to anemia or other blood-related conditions.

Ferritin is a protein in iron-metabolizing cells that stores iron in a water-soluble form. It is found inside the cells (intracellular) and is released into the bloodstream when the cells break down or die. Measuring the level of ferritin in the blood can help determine the amount of iron stored in the body. High levels of ferritin may indicate hemochromatosis, inflammation, liver disease, or other conditions. Low levels of ferritin may indicate anemia, iron deficiency, or other conditions.

Iron chelating agents are medications that bind to iron in the body, forming a stable complex that can then be excreted from the body. These agents are primarily used to treat iron overload, a condition that can occur due to frequent blood transfusions or certain genetic disorders such as hemochromatosis. By reducing the amount of iron in the body, these medications can help prevent or reduce damage to organs such as the heart and liver. Examples of iron chelating agents include deferoxamine, deferasirox, and deferiprone.

A splenectomy is a surgical procedure in which the spleen is removed from the body. The spleen is an organ located in the upper left quadrant of the abdomen, near the stomach and behind the ribs. It plays several important roles in the body, including fighting certain types of infections, removing old or damaged red blood cells from the circulation, and storing platelets and white blood cells.

There are several reasons why a splenectomy may be necessary, including:

* Trauma to the spleen that cannot be repaired
* Certain types of cancer, such as Hodgkin's lymphoma or non-Hodgkin's lymphoma
* Sickle cell disease, which can cause the spleen to enlarge and become damaged
* A ruptured spleen, which can be life-threatening if not treated promptly
* Certain blood disorders, such as idiopathic thrombocytopenic purpura (ITP) or hemolytic anemia

A splenectomy is typically performed under general anesthesia and may be done using open surgery or laparoscopically. After the spleen is removed, the incision(s) are closed with sutures or staples. Recovery time varies depending on the individual and the type of surgery performed, but most people are able to return to their normal activities within a few weeks.

It's important to note that following a splenectomy, individuals may be at increased risk for certain types of infections, so it's recommended that they receive vaccinations to help protect against these infections. They should also seek medical attention promptly if they develop fever, chills, or other signs of infection.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Erythrocytes, also known as red blood cells (RBCs), are the most common type of blood cell in circulating blood in mammals. They are responsible for transporting oxygen from the lungs to the body's tissues and carbon dioxide from the tissues to the lungs.

Erythrocytes are formed in the bone marrow and have a biconcave shape, which allows them to fold and bend easily as they pass through narrow blood vessels. They do not have a nucleus or mitochondria, which makes them more flexible but also limits their ability to reproduce or repair themselves.

In humans, erythrocytes are typically disc-shaped and measure about 7 micrometers in diameter. They contain the protein hemoglobin, which binds to oxygen and gives blood its red color. The lifespan of an erythrocyte is approximately 120 days, after which it is broken down in the liver and spleen.

Abnormalities in erythrocyte count or function can lead to various medical conditions, such as anemia, polycythemia, and sickle cell disease.

An erythrocyte, also known as a red blood cell, is a type of cell that circulates in the blood and is responsible for transporting oxygen throughout the body. The erythrocyte membrane refers to the thin, flexible barrier that surrounds the erythrocyte and helps to maintain its shape and stability.

The erythrocyte membrane is composed of a lipid bilayer, which contains various proteins and carbohydrates. These components help to regulate the movement of molecules into and out of the erythrocyte, as well as provide structural support and protection for the cell.

The main lipids found in the erythrocyte membrane are phospholipids and cholesterol, which are arranged in a bilayer structure with the hydrophilic (water-loving) heads facing outward and the hydrophobic (water-fearing) tails facing inward. This arrangement helps to maintain the integrity of the membrane and prevent the leakage of cellular components.

The proteins found in the erythrocyte membrane include integral proteins, which span the entire width of the membrane, and peripheral proteins, which are attached to the inner or outer surface of the membrane. These proteins play a variety of roles, such as transporting molecules across the membrane, maintaining the shape of the erythrocyte, and interacting with other cells and proteins in the body.

The carbohydrates found in the erythrocyte membrane are attached to the outer surface of the membrane and help to identify the cell as part of the body's own immune system. They also play a role in cell-cell recognition and adhesion.

Overall, the erythrocyte membrane is a complex and dynamic structure that plays a critical role in maintaining the function and integrity of red blood cells.

Deferoxamine is a medication used to treat iron overload, which can occur due to various reasons such as frequent blood transfusions or excessive iron intake. It works by binding to excess iron in the body and promoting its excretion through urine. This helps to prevent damage to organs such as the heart and liver that can be caused by high levels of iron.

Deferoxamine is an injectable medication that is typically administered intravenously or subcutaneously, depending on the specific regimen prescribed by a healthcare professional. It may also be used in combination with other medications to manage iron overload more effectively.

It's important to note that deferoxamine should only be used under the guidance of a medical professional, as improper use or dosing can lead to serious side effects or complications.

5'-Nucleotidase is an enzyme that is found on the outer surface of cell membranes, including those of liver cells and red blood cells. Its primary function is to catalyze the hydrolysis of nucleoside monophosphates, such as adenosine monophosphate (AMP) and guanosine monophosphate (GMP), to their corresponding nucleosides, such as adenosine and guanosine, by removing a phosphate group from the 5' position of the nucleotide.

Abnormal levels of 5'-Nucleotidase in the blood can be indicative of liver or bone disease. For example, elevated levels of this enzyme in the blood may suggest liver damage or injury, such as that caused by hepatitis, cirrhosis, or alcohol abuse. Conversely, low levels of 5'-Nucleotidase may be associated with certain types of anemia, including aplastic anemia and paroxysmal nocturnal hemoglobinuria.

Medical professionals may order a 5'-Nucleotidase test to help diagnose or monitor the progression of these conditions. It is important to note that other factors, such as medication use or muscle damage, can also affect 5'-Nucleotidase levels, so results must be interpreted in conjunction with other clinical findings and diagnostic tests.

Pyridones are a class of organic compounds that contain a pyridone ring, which is a heterocyclic ring consisting of a six-membered ring with five carbon atoms and one nitrogen atom, with one oxygen atom attached to the nitrogen atom by a double bond. Pyridones can be found in various natural sources, including plants and microorganisms, and they also have important applications in the pharmaceutical industry as building blocks for drug design and synthesis. Some drugs that contain pyridone rings include antihistamines, anti-inflammatory agents, and antiviral agents.

Interleukin-1 beta (IL-1β) is a member of the interleukin-1 cytokine family and is primarily produced by activated macrophages in response to inflammatory stimuli. It is a crucial mediator of the innate immune response and plays a key role in the regulation of various biological processes, including cell proliferation, differentiation, and apoptosis. IL-1β is involved in the pathogenesis of several inflammatory diseases, such as rheumatoid arthritis, inflammatory bowel disease, and atherosclerosis. It exerts its effects by binding to the interleukin-1 receptor, which triggers a signaling cascade that leads to the activation of various transcription factors and the expression of target genes.

Beta-globins are the type of globin proteins that make up the beta-chain of hemoglobin, the oxygen-carrying protein in red blood cells. Hemoglobin is composed of four polypeptide chains, two alpha-globin and two beta-globin chains, arranged in a specific structure. The beta-globin gene is located on chromosome 11, and mutations in this gene can lead to various forms of hemoglobin disorders such as sickle cell anemia and beta-thalassemia.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

Hemoglobin H (Hb H) is a type of abnormal hemoglobin that can occur in individuals with certain genetic disorders, such as hemoglobinopathies. It is formed when four beta-globin chains come together, instead of the usual two alpha and two beta chains found in normal adult hemoglobin (Hb A).

This abnormal structure can result from a mutation that causes the absence or deficiency of alpha-globin chains, leading to an excess of beta-globin chains. Hemoglobin H is often associated with conditions such as thalassemia, particularly when there is a severe deficiency of alpha-globin chain production (alpha-thalassemia).

Hemoglobin H can cause hemolytic anemia, which means that the red blood cells are destroyed prematurely. The severity of the condition depends on the degree of imbalance between alpha and beta chains and other genetic factors. Symptoms may include fatigue, jaundice, and splenomegaly (enlarged spleen).

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Beta-2 microglobulin (β2M) is a small protein that is a component of the major histocompatibility complex class I molecule, which plays a crucial role in the immune system. It is found on the surface of almost all nucleated cells in the body and is involved in presenting intracellular peptides to T-cells for immune surveillance.

β2M is produced at a relatively constant rate by cells throughout the body and is freely filtered by the glomeruli in the kidneys. Under normal circumstances, most of the filtrated β2M is reabsorbed and catabolized in the proximal tubules of the nephrons. However, when the glomerular filtration rate (GFR) is decreased, as in chronic kidney disease (CKD), the reabsorption capacity of the proximal tubules becomes overwhelmed, leading to increased levels of β2M in the blood and its subsequent appearance in the urine.

Elevated serum and urinary β2M levels have been associated with various clinical conditions, such as CKD, multiple myeloma, autoimmune disorders, and certain infectious diseases. Measuring β2M concentrations can provide valuable information for diagnostic, prognostic, and monitoring purposes in these contexts.

In the context of medicine, iron is an essential micromineral and key component of various proteins and enzymes. It plays a crucial role in oxygen transport, DNA synthesis, and energy production within the body. Iron exists in two main forms: heme and non-heme. Heme iron is derived from hemoglobin and myoglobin in animal products, while non-heme iron comes from plant sources and supplements.

The recommended daily allowance (RDA) for iron varies depending on age, sex, and life stage:

* For men aged 19-50 years, the RDA is 8 mg/day
* For women aged 19-50 years, the RDA is 18 mg/day
* During pregnancy, the RDA increases to 27 mg/day
* During lactation, the RDA for breastfeeding mothers is 9 mg/day

Iron deficiency can lead to anemia, characterized by fatigue, weakness, and shortness of breath. Excessive iron intake may result in iron overload, causing damage to organs such as the liver and heart. Balanced iron levels are essential for maintaining optimal health.

Bone marrow transplantation (BMT) is a medical procedure in which damaged or destroyed bone marrow is replaced with healthy bone marrow from a donor. Bone marrow is the spongy tissue inside bones that produces blood cells. The main types of BMT are autologous, allogeneic, and umbilical cord blood transplantation.

In autologous BMT, the patient's own bone marrow is used for the transplant. This type of BMT is often used in patients with lymphoma or multiple myeloma who have undergone high-dose chemotherapy or radiation therapy to destroy their cancerous bone marrow.

In allogeneic BMT, bone marrow from a genetically matched donor is used for the transplant. This type of BMT is often used in patients with leukemia, lymphoma, or other blood disorders who have failed other treatments.

Umbilical cord blood transplantation involves using stem cells from umbilical cord blood as a source of healthy bone marrow. This type of BMT is often used in children and adults who do not have a matched donor for allogeneic BMT.

The process of BMT typically involves several steps, including harvesting the bone marrow or stem cells from the donor, conditioning the patient's body to receive the new bone marrow or stem cells, transplanting the new bone marrow or stem cells into the patient's body, and monitoring the patient for signs of engraftment and complications.

BMT is a complex and potentially risky procedure that requires careful planning, preparation, and follow-up care. However, it can be a life-saving treatment for many patients with blood disorders or cancer.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

I'm sorry for any confusion, but "India" is not a medical term or concept. It is a country in South Asia, the second-most populous country in the world, known for its rich history, diverse culture, and numerous contributions to various fields including medicine. If you have any questions related to medical topics, I would be happy to help answer them!

Sickle cell trait is a genetic condition where an individual inherits one abnormal gene for hemoglobin S (HbS) from one parent and one normal gene for hemoglobin A (HbA) from the other parent. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body.

People with sickle cell trait do not have sickle cell disease, but they can pass the abnormal HbS gene on to their children. In certain situations, such as high altitude, low oxygen levels, or intense physical exertion, individuals with sickle cell trait may experience symptoms similar to those of sickle cell disease, such as fatigue, pain, and shortness of breath. However, these symptoms are typically milder and less frequent than in people with sickle cell disease.

It is important for individuals who know they have sickle cell trait to inform their healthcare providers, especially if they become pregnant or plan to engage in activities that may cause low oxygen levels, such as scuba diving or high-altitude climbing.

Adrenergic receptors are a type of G protein-coupled receptor that binds and responds to catecholamines, such as epinephrine (adrenaline) and norepinephrine (noradrenaline). Beta adrenergic receptors (β-adrenergic receptors) are a subtype of adrenergic receptors that include three distinct subclasses: β1, β2, and β3. These receptors are widely distributed throughout the body and play important roles in various physiological functions, including cardiovascular regulation, bronchodilation, lipolysis, and glucose metabolism.

β1-adrenergic receptors are primarily located in the heart and regulate cardiac contractility, chronotropy (heart rate), and relaxation. β2-adrenergic receptors are found in various tissues, including the lungs, vascular smooth muscle, liver, and skeletal muscle. They mediate bronchodilation, vasodilation, glycogenolysis, and lipolysis. β3-adrenergic receptors are mainly expressed in adipose tissue, where they stimulate lipolysis and thermogenesis.

Agonists of β-adrenergic receptors include catecholamines like epinephrine and norepinephrine, as well as synthetic drugs such as dobutamine (a β1-selective agonist) and albuterol (a non-selective β2-agonist). Antagonists of β-adrenergic receptors are commonly used in the treatment of various conditions, including hypertension, angina pectoris, heart failure, and asthma. Examples of β-blockers include metoprolol (a β1-selective antagonist) and carvedilol (a non-selective β-blocker with additional α1-adrenergic receptor blocking activity).

Integrin β3 is a subunit of certain integrin heterodimers, which are transmembrane receptors that mediate cell-cell and cell-extracellular matrix (ECM) adhesion. Integrin β3 combines with either integrin αv (to form the integrin αvβ3) or integrin αIIb (to form the integrin αIIbβ3). These integrins are involved in various cellular processes, including platelet aggregation, angiogenesis, and tumor metastasis.

Integrin αIIbβ3 is primarily expressed on platelets and mediates platelet aggregation by binding to fibrinogen, von Willebrand factor, and other adhesive proteins in the ECM. Integrin αvβ3 is widely expressed in various cell types and participates in diverse functions such as cell migration, proliferation, differentiation, and survival. It binds to a variety of ECM proteins, including fibronectin, vitronectin, and osteopontin, as well as to soluble ligands like vascular endothelial growth factor (VEGF) and transforming growth factor-β (TGF-β).

Dysregulation of integrin β3 has been implicated in several pathological conditions, such as thrombosis, atherosclerosis, tumor metastasis, and inflammatory diseases.

Hemosiderosis is a medical condition characterized by the abnormal accumulation of hemosiderin, an iron-containing protein, in various organs and tissues of the body. Hemosiderin is derived from the breakdown of hemoglobin, which is the oxygen-carrying protein in red blood cells. When there is excessive breakdown of red blood cells or impaired clearance of hemosiderin, it can lead to its accumulation in organs such as the liver, spleen, and lungs.

Hemosiderosis can be classified into two types: primary and secondary. Primary hemosiderosis is a rare condition that is caused by genetic disorders affecting red blood cells, while secondary hemosiderosis is more common and is associated with various conditions that cause excessive breakdown of red blood cells or chronic inflammation. These conditions include hemolytic anemias, repeated blood transfusions, liver diseases, infections, and certain autoimmune disorders.

The accumulation of hemosiderin can lead to tissue damage and organ dysfunction, particularly in the lungs, where it can cause pulmonary fibrosis, and in the heart, where it can lead to heart failure. Hemosiderosis is typically diagnosed through a combination of medical history, physical examination, and laboratory tests, including blood tests and imaging studies such as chest X-rays or MRI scans. Treatment of hemosiderosis depends on the underlying cause and may include medications, blood transfusions, or supportive care to manage symptoms and prevent complications.

Delta-thalassemia is a type of thalassemia, which is an inherited blood disorder that affects the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. In delta-thalassemia, there is a mutation or deletion in the gene that produces the delta-globin chain, which is one of the four chains that make up the adult hemoglobin molecule (HbA).

There are two types of delta-thalassemia:

1. Delta-thalassemia minor: This type of delta-thalassemia occurs when a person inherits one mutated or deleted delta-globin gene from one parent and one normal gene from the other parent. People with delta-thalassemia minor usually have mild anemia, which may not cause any symptoms.
2. Delta-thalassemia major: This type of delta-thalassemia occurs when a person inherits two mutated or deleted delta-globin genes, one from each parent. People with delta-thalassemia major have severe anemia and other complications, such as bone deformities, enlarged spleen, and growth retardation. They may require regular blood transfusions to manage their anemia.

Delta-thalassemia can also occur in combination with other types of thalassemia, such as beta-thalassemia, which can further complicate the clinical picture. Treatment for delta-thalassemia depends on the severity of the condition and may include blood transfusions, iron chelation therapy, and occasionally bone marrow transplantation.

Hemoglobin S (HbS) is a genetic variant of hemoglobin, which is the oxygen-carrying protein in red blood cells. This abnormal form of hemogllobin results from a mutation in the beta-globin gene, leading to the substitution of valine for glutamic acid at position six of the beta-globin chain.

In individuals with sickle cell disease (a group of inherited red blood cell disorders), both copies of their beta-globin genes carry this mutation, causing the majority of their hemoglobin to be HbS. When deoxygenated, HbS molecules have a tendency to polymerize and form long, rigid rods within the red blood cells, distorting their shape into a characteristic sickle or crescent form.

These sickled red blood cells are less flexible and more prone to rupture (hemolysis), leading to chronic anemia, vaso-occlusive crises, and other disease complications. Sickle cell disease primarily affects people of African, Mediterranean, Middle Eastern, and Indian ancestry, but it can also be found in other populations worldwide.

Transforming Growth Factor-beta (TGF-β) is a type of cytokine, which is a cell signaling protein involved in the regulation of various cellular processes, including cell growth, differentiation, and apoptosis (programmed cell death). TGF-β plays a critical role in embryonic development, tissue homeostasis, and wound healing. It also has been implicated in several pathological conditions such as fibrosis, cancer, and autoimmune diseases.

TGF-β exists in multiple isoforms (TGF-β1, TGF-β2, and TGF-β3) that are produced by many different cell types, including immune cells, epithelial cells, and fibroblasts. The protein is synthesized as a precursor molecule, which is cleaved to release the active TGF-β peptide. Once activated, TGF-β binds to its receptors on the cell surface, leading to the activation of intracellular signaling pathways that regulate gene expression and cell behavior.

In summary, Transforming Growth Factor-beta (TGF-β) is a multifunctional cytokine involved in various cellular processes, including cell growth, differentiation, apoptosis, embryonic development, tissue homeostasis, and wound healing. It has been implicated in several pathological conditions such as fibrosis, cancer, and autoimmune diseases.

Hypochromic anemia is a type of anemia characterized by the presence of red blood cells that have lower than normal levels of hemoglobin and appear paler in color than normal. Hemoglobin is a protein in red blood cells that carries oxygen from the lungs to the rest of the body. In hypochromic anemia, there may be a decrease in the production or increased destruction of red blood cells, leading to a reduced number of red blood cells and insufficient oxygen supply to the tissues.

Hypochromic anemia can result from various underlying medical conditions, including iron deficiency, thalassemia, chronic inflammation, lead poisoning, and certain infections or chronic diseases. Treatment for hypochromic anemia depends on the underlying cause and may include iron supplements, dietary changes, medications, or blood transfusions.

Osmotic fragility is a term used in medicine, specifically in the field of hematology. It refers to the susceptibility or tendency of red blood cells (RBCs) to undergo lysis (rupture or breaking open) when exposed to hypotonic solutions (solutions with lower osmotic pressure than the RBCs). This test is often used to diagnose and monitor hereditary spherocytosis, a genetic disorder that affects the structure and stability of red blood cells.

In this condition, the RBC membrane proteins are defective, leading to abnormally shaped and fragile cells. When these abnormal RBCs come into contact with hypotonic solutions, they rupture more easily than normal RBCs due to their decreased osmotic resistance. The degree of osmotic fragility can be measured through a laboratory test called the "osmotic fragility test," which evaluates the stability and structural integrity of RBCs in response to varying osmotic pressures.

In summary, osmotic fragility is a medical term that describes the increased susceptibility of red blood cells to lysis when exposed to hypotonic solutions, often associated with hereditary spherocytosis or other conditions affecting RBC membrane stability.

Hemoglobin C is a type of hemoglobin variant, which is the oxygen-carrying protein in red blood cells. Hemoglobin C is caused by a specific genetic mutation that results in the substitution of lysine for glutamic acid at position 6 on the beta globin chain of the hemoglobin molecule.

This variant is often associated with a benign condition known as hemoglobin C trait, where an individual inherits one copy of the mutated gene from one parent and one normal gene from the other parent. People with this trait usually have no symptoms or only mild anemia, if any. However, if an individual inherits two copies of the Hemoglobin C gene (one from each parent), they will have a more severe form of hemoglobin disorder called Hemoglobin CC disease, which can cause mild to moderate hemolytic anemia and other complications.

It's important to note that Hemoglobin C is most commonly found in people of West African descent, but it can also occur in other populations with African ancestry.

Extramedullary hematopoiesis (EMH) is defined as the production of blood cells outside of the bone marrow in adults. In normal physiological conditions, hematopoiesis occurs within the bone marrow cavities of flat bones such as the pelvis, ribs, skull, and vertebrae. However, certain disease states or conditions can cause EMH to occur in various organs such as the liver, spleen, lymph nodes, and peripheral blood.

EMH can be seen in several pathological conditions, including hematologic disorders such as myeloproliferative neoplasms (e.g., polycythemia vera, essential thrombocytopenia), myelodysplastic syndromes, and leukemias. It can also occur in response to bone marrow failure or infiltration by malignant cells, as well as in some non-hematologic disorders such as fibrocystic disease of the breast and congenital hemolytic anemias.

EMH may lead to organ enlargement, dysfunction, and clinical symptoms depending on the site and extent of involvement. Treatment of EMH is generally directed at managing the underlying condition causing it.

Messenger RNA (mRNA) is a type of RNA (ribonucleic acid) that carries genetic information copied from DNA in the form of a series of three-base code "words," each of which specifies a particular amino acid. This information is used by the cell's machinery to construct proteins, a process known as translation. After being transcribed from DNA, mRNA travels out of the nucleus to the ribosomes in the cytoplasm where protein synthesis occurs. Once the protein has been synthesized, the mRNA may be degraded and recycled. Post-transcriptional modifications can also occur to mRNA, such as alternative splicing and addition of a 5' cap and a poly(A) tail, which can affect its stability, localization, and translation efficiency.

Integrin α5β1, also known as very late antigen-5 (VLA-5) or fibronectin receptor, is a heterodimeric transmembrane receptor protein composed of two subunits: α5 and β1. This integrin is widely expressed in various cell types, including endothelial cells, smooth muscle cells, and fibroblasts.

Integrin α5β1 plays a crucial role in mediating cell-matrix adhesion by binding to the arginine-glycine-aspartic acid (RGD) sequence present in the extracellular matrix protein fibronectin. The interaction between integrin α5β1 and fibronectin is essential for various biological processes, such as cell migration, proliferation, differentiation, and survival. Additionally, this integrin has been implicated in several pathological conditions, including tumor progression, angiogenesis, and fibrosis.

Integrin beta4, also known as ITGB4 or CD104, is a type of integrin subunit that forms part of the integrin receptor along with an alpha subunit. Integrins are transmembrane proteins involved in cell-cell and cell-extracellular matrix (ECM) adhesion, signal transduction, and regulation of various cellular processes such as proliferation, differentiation, and migration.

Integrin beta4 is unique among the integrin subunits because it has a large cytoplasmic domain that can interact with several intracellular signaling molecules, making it an important regulator of cell behavior. Integrin beta4 is widely expressed in various tissues, including epithelial cells, endothelial cells, and hematopoietic cells.

Integrin beta4 forms heterodimers with integrin alpha6 to form the receptor for laminins, which are major components of the basement membrane. This receptor is involved in maintaining the integrity of epithelial tissues and regulating cell migration during development, tissue repair, and cancer progression. Mutations in ITGB4 have been associated with several human diseases, including epidermolysis bullosa, a group of inherited skin disorders characterized by fragile skin and blistering.

I'm sorry for any confusion, but "Italy" is not a medical term or concept. It is a country located in Southern Europe. If you have any questions related to medical terminology or health-related topics, I would be happy to try and help answer those for you.

Integrin α6β4 is a type of cell surface receptor that is composed of two subunits, α6 and β4. It is also known as CD49f/CD104. This integrin is primarily expressed in epithelial cells and plays important roles in cell adhesion, migration, and signal transduction.

Integrin α6β4 specifically binds to laminin-332 (also known as laminin-5), a component of the basement membrane, and forms a stable anchorage complex that links the cytoskeleton to the extracellular matrix. This interaction is critical for maintaining the integrity of epithelial tissues and regulating cell behavior during processes such as wound healing and tissue regeneration.

Mutations in the genes encoding integrin α6β4 have been associated with various human diseases, including epidermolysis bullosa, a group of inherited skin disorders characterized by fragile skin and blistering. Additionally, integrin α6β4 has been implicated in cancer progression and metastasis, as its expression is often upregulated in tumor cells and contributes to their invasive behavior.

Delta-globins are a type of hemoglobin protein that contains four polypeptide chains, specifically two alpha-like chains (alpha or gamma) and two delta chains. Hemoglobin is the primary oxygen-carrying protein in red blood cells, and its structure and function can vary depending on the combination of different chains.

Delta-globins are part of the adult hemoglobin molecule, known as hemoglobin A (HbA), which consists of two alpha chains and two delta chains (α2δ2). Hemoglobin A is the most abundant form of hemoglobin in adults, accounting for about 95-98% of total hemoglobin.

Delta-globins are encoded by the HBD gene located on chromosome 11. Mutations in this gene can lead to various forms of hemoglobinopathies, including sickle cell disease and delta-thalassemia. These genetic disorders can affect the structure, function, or production of hemoglobin, leading to anemia, fatigue, and other symptoms.

Integrin beta chains are a type of subunit that make up integrin receptors, which are heterodimeric transmembrane proteins involved in cell-cell and cell-extracellular matrix (ECM) adhesion. These receptors play crucial roles in various biological processes such as cell signaling, migration, proliferation, and differentiation.

Integrin beta chains combine with integrin alpha chains to form functional heterodimeric receptors. In humans, there are 18 different alpha subunits and 8 different beta subunits that can combine to form at least 24 distinct integrin receptors. The beta chain contributes to the cytoplasmic domain of the integrin receptor, which is involved in intracellular signaling and cytoskeletal interactions.

The beta chains are characterized by a conserved cytoplasmic region called the beta-tail domain, which interacts with various adaptor proteins to mediate downstream signaling events. Additionally, some integrin beta chains have a large inserted (I) domain in their extracellular regions that is responsible for ligand binding specificity.

Examples of integrin beta chains include β1, β2, β3, β4, β5, β6, β7, and β8, each with distinct functions and roles in various tissues and cell types. Mutations or dysregulation of integrin beta chains have been implicated in several human diseases, including cancer, inflammation, fibrosis, and developmental disorders.

Benzoates are the salts and esters of benzoic acid. They are widely used as preservatives in foods, cosmetics, and pharmaceuticals to prevent the growth of microorganisms. The chemical formula for benzoic acid is C6H5COOH, and when it is combined with a base (like sodium or potassium), it forms a benzoate salt (e.g., sodium benzoate or potassium benzoate). When benzoic acid reacts with an alcohol, it forms a benzoate ester (e.g., methyl benzoate or ethyl benzoate).

Benzoates are generally considered safe for use in food and cosmetics in small quantities. However, some people may have allergies or sensitivities to benzoates, which can cause reactions such as hives, itching, or asthma symptoms. In addition, there is ongoing research into the potential health effects of consuming high levels of benzoates over time, particularly in relation to gut health and the development of certain diseases.

In a medical context, benzoates may also be used as a treatment for certain conditions. For example, sodium benzoate is sometimes given to people with elevated levels of ammonia in their blood (hyperammonemia) to help reduce those levels and prevent brain damage. This is because benzoates can bind with excess ammonia in the body and convert it into a form that can be excreted in urine.

Beta 2-glycoprotein I, also known as apolipoprotein H, is a plasma protein that belongs to the family of proteins called immunoglobulin-binding proteins. It has a molecular weight of approximately 44 kDa and is composed of five domains with similar structures.

Beta 2-glycoprotein I is primarily produced in the liver and circulates in the bloodstream, where it plays a role in several physiological processes, including coagulation, complement activation, and lipid metabolism. It has been identified as an autoantigen in certain autoimmune disorders, such as antiphospholipid syndrome (APS), where autoantibodies against beta 2-glycoprotein I can cause blood clots, miscarriages, and other complications.

In medical terminology, the definition of "beta 2-glycoprotein I" is as follows:

A plasma protein that belongs to the family of immunoglobulin-binding proteins and has a molecular weight of approximately 44 kDa. It is primarily produced in the liver and circulates in the bloodstream, where it plays a role in several physiological processes, including coagulation, complement activation, and lipid metabolism. Autoantibodies against beta 2-glycoprotein I are associated with certain autoimmune disorders, such as antiphospholipid syndrome (APS), where they can cause blood clots, miscarriages, and other complications.

Erythrocyte aging, also known as red cell aging, is the natural process of changes and senescence that occur in red blood cells (erythrocytes) over time. In humans, mature erythrocytes are devoid of nuclei and organelles, and have a lifespan of approximately 120 days.

During aging, several biochemical and structural modifications take place in the erythrocyte, including:

1. Loss of membrane phospholipids and proteins, leading to increased rigidity and decreased deformability.
2. Oxidative damage to hemoglobin, resulting in the formation of methemoglobin and heinz bodies.
3. Accumulation of denatured proteins and aggregates, which can impair cellular functions.
4. Changes in the cytoskeleton, affecting the shape and stability of the erythrocyte.
5. Increased expression of surface markers, such as Band 3 and CD47, that signal the spleen to remove aged erythrocytes from circulation.

The spleen plays a crucial role in removing senescent erythrocytes by recognizing and phagocytosing those with altered membrane composition or increased expression of surface markers. This process helps maintain the overall health and functionality of the circulatory system.

"Medical electronics" refers to the field of electronics that is specifically designed for medical applications. This can include a wide range of devices and systems, such as:

1. Medical imaging equipment, such as X-ray machines, CT scanners, MRI machines, and ultrasound machines.
2. Patient monitoring equipment, such as heart rate monitors, blood pressure monitors, and oxygen saturation monitors.
3. Therapeutic devices, such as pacemakers, defibrillators, and deep brain stimulators.
4. Laboratory equipment, such as DNA sequencers, mass spectrometers, and microarray scanners.
5. Wearable health technology, such as fitness trackers, smartwatches, and continuous glucose monitors.
6. Telemedicine systems that enable remote consultations and patient monitoring.

Medical electronics must meet strict regulatory requirements to ensure safety, effectiveness, and reliability. These devices often require specialized electronic components, such as sensors, signal processing circuits, and power management circuits, that are designed to operate in the challenging environments found in medical settings. Medical electronics engineers must have a deep understanding of both electronics and medical applications to design and develop these complex systems.

Integrin α4β1, also known as Very Late Antigen-4 (VLA-4), is a heterodimeric transmembrane receptor protein composed of two subunits, α4 and β1. It is involved in various cellular activities such as adhesion, migration, and signaling. This integrin plays a crucial role in the immune system by mediating the interaction between leukocytes (white blood cells) and the endothelial cells that line blood vessels. The activation of Integrin α4β1 allows leukocytes to roll along and then firmly adhere to the endothelium, followed by their migration into surrounding tissues, particularly during inflammation and immune responses. Additionally, Integrin α4β1 also interacts with extracellular matrix proteins such as fibronectin and helps regulate cell survival, proliferation, and differentiation in various cell types.

Anemia is a medical condition characterized by a lower than normal number of red blood cells or lower than normal levels of hemoglobin in the blood. Hemoglobin is an important protein in red blood cells that carries oxygen from the lungs to the rest of the body. Anemia can cause fatigue, weakness, shortness of breath, and a pale complexion because the body's tissues are not getting enough oxygen.

Anemia can be caused by various factors, including nutritional deficiencies (such as iron, vitamin B12, or folate deficiency), blood loss, chronic diseases (such as kidney disease or rheumatoid arthritis), inherited genetic disorders (such as sickle cell anemia or thalassemia), and certain medications.

There are different types of anemia, classified based on the underlying cause, size and shape of red blood cells, and the level of hemoglobin in the blood. Treatment for anemia depends on the underlying cause and may include dietary changes, supplements, medication, or blood transfusions.

Hemoglobin C disease is a genetic disorder that affects the structure and function of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. The disease is caused by a mutation in the gene that produces the beta-globin chain of hemoglobin, resulting in the production of an abnormal form of hemoglobin called Hemoglobin C (HbC).

People with Hemoglobin C disease inherit one copy of the HbC gene from each parent. This means they have two copies of the mutated gene and produce mostly Hemoglobin C, instead of the normal Hemoglobin A. The presence of Hemoglobin C can cause the red blood cells to become rigid and fragile, leading to a condition called hemolytic anemia.

Symptoms of Hemoglobin C disease may include fatigue, weakness, shortness of breath, pale skin, jaundice, and dark urine. The severity of the symptoms can vary widely from person to person, with some individuals experiencing mild symptoms and others having more severe complications.

Hemoglobin C disease is a chronic condition that requires ongoing medical management, including regular monitoring of hemoglobin levels, iron status, and other blood parameters. Treatment may include blood transfusions, folic acid supplementation, and medications to manage symptoms such as anemia and pain.

It's important to note that Hemoglobin C disease is not the same as sickle cell disease, which is another genetic disorder that affects hemoglobin structure and function. While both conditions can cause hemolytic anemia, they are caused by different mutations in the beta-globin gene and have distinct clinical features and management approaches.

A gene is a specific sequence of nucleotides in DNA that carries genetic information. Genes are the fundamental units of heredity and are responsible for the development and function of all living organisms. They code for proteins or RNA molecules, which carry out various functions within cells and are essential for the structure, function, and regulation of the body's tissues and organs.

Each gene has a specific location on a chromosome, and each person inherits two copies of every gene, one from each parent. Variations in the sequence of nucleotides in a gene can lead to differences in traits between individuals, including physical characteristics, susceptibility to disease, and responses to environmental factors.

Medical genetics is the study of genes and their role in health and disease. It involves understanding how genes contribute to the development and progression of various medical conditions, as well as identifying genetic risk factors and developing strategies for prevention, diagnosis, and treatment.

Hemoglobin SC disease, also known as sickle cell-C disease or SC disorder, is a genetic blood disorder that is a variant of sickle cell anemia. It is caused by the presence of both hemoglobin S (HbS) and hemoglobin C (HbC) in the red blood cells.

Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. In Hemoglobin SC disease, the abnormal HbS and HbC proteins can cause the red blood cells to become rigid, sticky, and C-shaped (sickled), which can lead to blockages in small blood vessels.

Symptoms of Hemoglibin SC disease may include anemia, fatigue, jaundice, episodes of pain (known as sickle cell crises), and an increased risk of infection. The severity of the symptoms can vary widely from person to person. Treatment typically focuses on managing symptoms and preventing complications, and may include medications, blood transfusions, and sometimes a bone marrow transplant.

I'm sorry for any confusion, but "Melanesia" is not a medical term. It is a geographical region in the southwestern Pacific Ocean, consisting of an island group including New Guinea, the Bismarck Archipelago, the Solomon Islands, Vanuatu, New Caledonia, and the Fiji islands. The term "Melanesia" comes from the Greek words "melas," meaning black, and "nesos," meaning island, referring to the dark skin of the inhabitants. It's primarily used in anthropological, geographical, and cultural contexts.

Integrin α2β1, also known as very late antigen-2 (VLA-2) or laminin receptor, is a heterodimeric transmembrane receptor protein composed of α2 and β1 subunits. It belongs to the integrin family of adhesion molecules that play crucial roles in cell-cell and cell-extracellular matrix (ECM) interactions.

Integrin α2β1 is widely expressed on various cell types, including fibroblasts, endothelial cells, smooth muscle cells, and some hematopoietic cells. It functions as a receptor for several ECM proteins, such as collagens (type I, II, III, and V), laminin, and fibronectin. The binding of integrin α2β1 to these ECM components mediates cell adhesion, migration, proliferation, differentiation, and survival, thereby regulating various physiological and pathological processes, such as tissue repair, angiogenesis, inflammation, and tumor progression.

In addition, integrin α2β1 has been implicated in several diseases, including fibrosis, atherosclerosis, and cancer. Therefore, targeting this integrin with therapeutic strategies may provide potential benefits for treating these conditions.

Adrenergic receptors are a type of G protein-coupled receptor that bind and respond to catecholamines, such as epinephrine (adrenaline) and norepinephrine (noradrenaline). Beta-2 adrenergic receptors (β2-ARs) are a subtype of adrenergic receptors that are widely distributed throughout the body, particularly in the lungs, heart, blood vessels, gastrointestinal tract, and skeletal muscle.

When β2-ARs are activated by catecholamines, they trigger a range of physiological responses, including relaxation of smooth muscle, increased heart rate and contractility, bronchodilation, and inhibition of insulin secretion. These effects are mediated through the activation of intracellular signaling pathways involving G proteins and second messengers such as cyclic AMP (cAMP).

β2-ARs have been a major focus of drug development for various medical conditions, including asthma, chronic obstructive pulmonary disease (COPD), heart failure, hypertension, and anxiety disorders. Agonists of β2-ARs, such as albuterol and salmeterol, are commonly used to treat asthma and COPD by relaxing bronchial smooth muscle and reducing airway obstruction. Antagonists of β2-ARs, such as propranolol, are used to treat hypertension, angina, and heart failure by blocking the effects of catecholamines on the heart and blood vessels.

... trait (also known as beta thalassemia minor) involves heterozygous inheritance of a beta-thalassemia mutation ... Beta thalassemia minor can also present as beta thalassemia silent carriers; those who inherit a beta thalassemic mutation but ... usually as a result of beta thalassemia) Delta-thalassemia Hemoglobinopathy "Beta thalassemia". Genetics Home Reference. ... Beta thalassemiasthalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or ...
... can mask the diagnosis of beta thalassemia trait. In beta thalassemia, an increase in hemoglobin A2 ... Alpha thalassemia Beta-thalassemia Hemoglobinopathy "Delta-beta-thalassemia". Orphanet. Orphanet. Retrieved 16 September 2016 ... Delta-beta thalassemia is considered rare. Delta-beta-thalassemia is caused by deletions of the entire delta and beta genes ... Delta-beta thalassemia is a rare form of thalassemia in which there is a reduced production of hemoglobin subunit delta and ...
... is caused by inheritance of a sickle cell allele from one parent and a beta thalassemia allele ... Sickle cell-beta thalassemia is an inherited blood disorder. The disease may range in severity from being relatively benign and ... "Newborn Screening Program - Sickle Cell Beta Thalassemia Disease". www.idph.state.il.us. Retrieved 2015-06-18. Ashley-Koch, A; ... Patients with sickle cell-beta thalassemia may present with painful crises similar to patients with sickle cell disease[ ...
There are two main types, alpha thalassemia and beta thalassemia. The severity of alpha and beta thalassemia depends on how ... Online Mendelian Inheritance in Man (OMIM): Hemoglobin-Beta Locus; HBB - 141900 "Delta-beta-thalassemia". Orphanet. Orphanet. ... almost all patients with beta-thalassemia accumulate potentially fatal iron levels. Infection: People with thalassemia have an ... The beta form of thalassemia is particularly prevalent among Mediterranean peoples, and this geographical association is ...
... of the population carry alpha-thalassaemia genes. Beta-thalassemia Delta-thalassemia Hemoglobinopathy Origa, Raffaella; Moi, ... Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 and HBA2. Thalassemias are ... Furthermore, alpha-thalassemia leads to the production of unstable beta globin molecules which cause increased red blood cell ... Normal hemoglobin consists of two alpha chains and two beta chains; in alpha-thalassemia, there is a quantitative decrease in ...
Beta thalassemia is an inherited genetic mutation in one (Beta thalassemia minor) or both (Beta thalassemia major) of the Beta ... Beta thalassemia minor occurs when an individual inherits one normal Beta allele and one abnormal Beta allele (either β0, or β+ ... Hemoglobin subunit beta (beta globin, β-globin, haemoglobin beta, hemoglobin beta) is a globin protein, coded for by the HBB ... "Alpha and beta thalassemia". American Family Physician. 80 (4): 339-44. PMID 19678601. "Beta thalassemia". Genetics Home ...
... beta thalassemia major, a form of microcytic anemia. In β thalassemia major the beta hemoglobin chain is completely absent, ... Galanello, Renzo; Origa, Raffaella (2010-05-21). "Beta-thalassemia". Orphanet Journal of Rare Diseases. 5: 11. doi:10.1186/1750 ...
"Beta thalassemia". Genetics Home Reference. U.S. National Library of Medicine, NIH. March 13, 2011. Retrieved 21 March 2011. ... "Hemoglobinopathies and Thalassemias". Archived from the original on 2007-12-15. Retrieved 2011-03-03. "Sickle Cell Trait and ... Rivella, S. (May 2009). "Ineffective erythropoiesis and thalassemias". Curr. Opin. Hematol. 16 (3): 187-94. doi:10.1097/MOH. ... "Alpha thalassemia". Genetics Home Reference. U.S. National Library of Medicine. February 27, 2011. Retrieved 3 March 2011. " ...
Galanello R, Origa R (May 2010). "Beta-thalassemia". Orphanet Journal of Rare Diseases. 5: 11. doi:10.1186/1750-1172-5-11. PMC ... Robinson S, Vanier T, Desforges JF, Schmid R (September 1962). "Jaundice in thalassemia minor: a consequence of "ineffective ... Other less commonly observed causes of hemolysis include: Hemolysis secondary to drug toxicity Thalassemia minor Congenital ... thalassemia minor, and congenital dyserythropoietic anemias. Pathophysiology of hemolytic jaundice directly involves the ...
Beta thalassemia is caused by mutations to or deletions of the HBB gene leading to reduced or absent synthesis of the beta ... Betibeglogene autotemcel, sold under the brand name Zynteglo, is a medication for the treatment for beta thalassemia. It was ... "FDA Approves First Cell-Based Gene Therapy to Treat Adult and Pediatric Patients with Beta-thalassemia Who Require Regular ... In early clinical trials several participants with beta thalassemia, who usually require frequent blood transfusions to treat ...
It is said to be helpful in differentiating iron deficiency anemia from beta thalassemia trait. The index is calculated from ... "Beta Thalassemia Differential Diagnoses". emedicine.medscape.com. Retrieved 2023-06-28. Joseph Mazza (15 January 2002). Manual ... Conversely, in thalassemia, which is a disorder of globin synthesis, the number of RBCs produced is normal, but the cells are ... July 2007). "Discrimination indices as screening tests for beta-thalassemic trait". Ann. Hematol. 86 (7): 487-91. doi:10.1007/ ...
Diamond was researching the Beta Thalassemia genetic trait, which he suspected was present in Ashkenazi Jewish families in his ... Diamond, Stanley M. (3 August 2004). "About the beta-thalassemia project". DiamondGen. Retrieved 14 March 2016. Burstein, ...
HBA2 Thalassemia, Hispanic gamma-delta-beta; 604131; LCRB Thalassemia-beta, dominant inclusion-body; 603902; HBB Thalassemias, ... alpha-; 604131; HBA1 Thalassemias, beta-; 604131; HBB Thanatophoric dysplasia, type I; 187600; FGFR3 Thiamine-responsive ... CYCS Thrombocytopenia with beta-thalassemia, X-linked; 314050; GATA1 Thrombocytopenia, congenital amegakaryocytic; 604498; MPL ... ACAT1 Alpha-thalassemia myelodysplasia syndrome, somatic; 300448; ATRX Alpha-thalassemia mental retardation syndrome; 301040; ...
These disorders include sickle cell-beta thalassemia. In the case of sickle cell anemia, an individual with one allele for ... 1988). "Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United ... Ohno, Kousaku & Suzuki, Kunihiko (1988-12-05). "Multiple Abnormal beta-Hexosaminidase alpha-Chain mRNAs in a Compound- ... sickle cell disorders result from inheritance of the sickle cell gene in a compound heterozygous manner with other mutant beta ...
1988). "Beta-thalassemia due to a T----A mutation within the ATA box". Biochem. Biophys. Res. Commun. 153 (2): 741-7. doi: ... Chang JC, Kan YW (1979). "beta 0 thalassemia, a nonsense mutation in man". Proc. Natl. Acad. Sci. U.S.A. 76 (6): 2886-9. ... The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5' - epsilon - gamma- ... Tuan D, Solomon W, Li Q, London IM (1985). "The "beta-like-globin" gene domain in human erythroid cells". Proc. Natl. Acad. Sci ...
Beta thalassemia may also result in transfusion dependence. Concerns from repeated blood transfusions include iron overload. ... and beta-thalassemia HbE syndrome HbC syndrome Various other unstable hemoglobin diseases Sideroblastic defect Hereditary ... The types of anemia treated with drugs are Iron deficiency anemia, thalassemia, aplastic anemia, hemolytic anemia, sickle cell ... Causes of decreased production include iron deficiency, vitamin B12 deficiency, thalassemia and a number of bone marrow tumors ...
Chang JC, Kan YW (June 1979). "beta 0 thalassemia, a nonsense mutation in man". Proceedings of the National Academy of Sciences ... nonsense mutations are examples of point mutations that can cause genetic diseases such as sickle-cell disease and thalassemia ...
Chang JC, Kan YW (1979). "beta 0 thalassemia, a nonsense mutation in man". Proc. Natl. Acad. Sci. U.S.A. 76 (6): 2886-9. ... Also, in cases of beta-thalassemia and related conditions, gamma chain production may be maintained, possibly as a mechanism to ... 1993). "Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia". Hemoglobin. 16 (6): 503-9. doi: ... The order of the genes in the beta-globin cluster is: 5' - epsilon - gamma-G - gamma-A - delta - beta - 3'. GRCh38: Ensembl ...
Diagnosis is made by DNA analysis for alpha thalassemia and hemoglobin analysis for beta thalassemia. Management of thalassemia ... Thalassemia is an inherited condition that has variants in alpha or beta globin genes that result in lower levels of globin ... resulting in alpha thalassemia or beta thalassemia, respectively. ... "Current status of beta-thalassemia and its treatment strategies". Molecular Genetics & Genomic Medicine. 9 (12): e1788. doi: ...
Dietary indicaxanthin has been shown to have protective effects on RBCs in people with beta thalassemia. It has a structure ... 2006). "A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia". Blood. ... 2006). "Randomized controlled trial of deferiprone or deferoxamine in beta-thalassemia major patients with asymptomatic ... Severe thalassemia : Patients with severe thalassemia require medical treatment. A blood transfusion regimen was the first ...
Hb H usually occurs in some alpha thalassemia and is composed of four beta globin (protein) chains. This variant is usually ... Another way that beta genes can be inherited is in a homozygous fashion. This means that the person has two abnormal beta genes ... The levels can be normal to increased in beta thalassemia. Hemoglobin F frequently increases in individuals with sickle cell ... This means that the person has one normal beta gene and one abnormal beta gene. This person is considered to be a carrier of ...
... and the abnormal alpha/beta globin chain abnormality of thalassemia from thalassemia mRNA. As a first approach for developing a ... Gilbert, J.M.; Thornton, A.G.; Nienhuis, A.W.; Anderson, W.F.: Cell-free hemoglobin synthesis in beta-thalassemia. Proc. Natl. ... Nienhuis, A.W. and Anderson, W.F.: Isolation and translation of hemoglobin messenger RNA from thalassemia, sickle cell anemia, ... Stripped rabbit reticulocyte ribosomes were programmed with mRNA isolated from thalassemia, sickle cell anemia, or normal human ...
Application to prenatal diagnosis of beta 0 thalassemia in Sardinia". The New England Journal of Medicine. 302 (4): 185-8. doi: ... ISBN 978-0-12-369428-7. Kan YW, Lee KY, Furbetta M, Angius A, Cao A (January 1980). "Polymorphism of DNA sequence in the beta- ... suggested a prenatal genetic test for Thalassemia that did not rely upon DNA sequencing-then in its infancy-but on restriction ... "Molecular Diagnostics of β-Thalassemia". Balkan Journal of Medical Genetics. 15 (Suppl): 61-5. doi:10.2478/v10034-012-0021-z. ...
1 in 25,000 Hb S/Beta-Thalassemia (Hb S/Th) > 1 in 50,000 Inborn errors of amino acid metabolism Tyrosinemia I (TYR I) < 1 in ... 1 in 100,000 Beta-ketothiolase deficiency (BKT) < 1 in 100,000 Propionic acidemia (PROP) > 1 in 75,000 Multiple-CoA carboxylase ... Beta-methyl crotonyl carboxylase deficiency Adenosylcobalamin synthesis defects Inborn errors of fatty acid metabolism Medium/ ...
Hb S beta thalassemia is the least common and is experienced in patients who have inherited beta thalassemia hemoglobin from ... Beta-thalassemia (β-thalassemia) is an inherited mutation of the β-globulin gene which causes the reduced synthesis of the β- ... α-thalassemia whereas, if the mutation is on both then it is considered an α-thalassemia trait. α-thalassemia is mostly found ... Alpha-thalassemia (α-thalassemia) is defined by a lack of α-globin chain production in hemoglobin, and those who carry a ...
Beta-thalassemia constitutes a major public health problem in the UAE. During 1989-2004, more than 850 patients have been ... in 2014 16,247 people were tested, 342 were Beta-thalassaemia carriers, 8 had sickle-cell anaemia, 205 were sickle-cell anaemia ... Surveys have shown that the UAE exhibits one of the highest carrier frequencies of β-thalassemia in the Persian Gulf region ... thalassaemia, and syphilis. The Health Authority - Abu Dhabi introduced premarital screening and counselling in 2011. 56,226 ...
The main types of thalassemia are alpha-thalassemia and beta thalassemia. The two conditions may overlap because some ... Throughout life, the synthesis of the alpha-like and the beta-like (also called non-alpha-like) chains is balanced so that ... The specific alpha and beta-like chains that are incorporated into Hb are highly regulated during development:[citation needed ... chain and one beta-like (β-like) chain. Each globin chain is associated with an iron-containing heme moiety. ...
2006). "Screening of concurrent alpha-thalassaemia 1 in beta-thalassaemia carriers". Med. J. Malaysia. 61 (2): 217-20. PMID ... Ye BC, Zhang Z, Lei Z (2007). "Molecular analysis of alpha/beta-thalassemia in a southern Chinese population". Genet. Test. 11 ... Hemoglobin subunit alpha has been shown to interact with hemoglobin subunit beta (HBB). Hemoglobin subunit beta Human β-globin ... GeneReviews/NCBI/NIH/UW entry on Alpha-Thalassemia OMIM entries on Alpha-Thalassemia Overview of all the structural information ...
Antonarakis SE, Irkin SH, Cheng TC, Scott AF, Sexton JP, Trusko SP, Charache S, Kazazian HH (1984). "beta-Thalassemia in ... "Beta-thalassemia due to a T----A mutation within the ATA box". Biochemical and Biophysical Research Communications. 153 (2): ... Zienolddiny S, Ryberg D, Maggini V, Skaug V, Canzian F, Haugen A (April 2004). "Polymorphisms of the interleukin-1 beta gene ... Some diseases that can be caused due to this insufficiency by specific gene transcription are: Thalassemia, lung cancer, ...
In 2010 she performed gene therapy on a child with beta thalassemia. Children who are born with Thalassemia Major often develop ... "Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia". New England Journal of Medicine. 378 (16): 1479-1493. doi: ... "Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia". Nature. 467 (7313): 318-322. Bibcode ...
Beta thalassemia trait (also known as beta thalassemia minor) involves heterozygous inheritance of a beta-thalassemia mutation ... Beta thalassemia minor can also present as beta thalassemia silent carriers; those who inherit a beta thalassemic mutation but ... usually as a result of beta thalassemia) Delta-thalassemia Hemoglobinopathy "Beta thalassemia". Genetics Home Reference. ... Beta thalassemiasthalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or ...
Beta thalassemia is a blood disorder that reduces the production of hemoglobin . Explore symptoms, inheritance, genetics of ... The absence of beta-globin is referred to as beta-zero (β0) thalassemia. Other HBB gene variants allow some beta-globin to be ... A reduced amount of beta-globin is called beta-plus (β+) thalassemia. Having either β0 or β+ thalassemia does not necessarily ... Beta thalassemia is a fairly common blood disorder worldwide. Thousands of infants with beta thalassemia are born each year. ...
In the homozygous state, beta thalassemia (ie, thalassemia major) causes severe, transfusion-dependent anemia. ... Beta thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of beta- ... Beta-globin gene mutations. Mutations in globin genes cause thalassemias. Beta thalassemia affects one or both of the beta- ... In beta thalassemia minor (ie, beta thalassemia trait or heterozygous carrier-type), one of the beta-globin genes is defective ...
Transfusion Management of Beta (β) Thalassemia: Initiating Regular Transfusions. A Thalassemia Resource for Healthcare ... Why People with β Thalassemia Need Transfusions. The primary management of severe anemia in β thalassemia is regular red cell ... β thalassemia is caused by β-globin gene variants that reduce the production of adult hemoglobin (HbA) which. may cause anemia. ... The Thalassemia Western Consortium recommends regular transfusions if either of the following conditions are met:. *Hemoglobin ...
Thalassemias are inherited blood disorders. They affect your ability to make hemoglobin. This can cause anemia. Learn about the ... Alpha Thalassemia (For Parents) (Nemours Foundation) Also in Spanish * Beta Thalassemia (For Parents) (Nemours Foundation) Also ... ClinicalTrials.gov: beta-Thalassemia (National Institutes of Health) * ClinicalTrials.gov: Thalassemia (National Institutes of ... Alpha thalassemia: MedlinePlus Genetics (National Library of Medicine) * Beta thalassemia: MedlinePlus Genetics (National ...
In the homozygous state, beta thalassemia (ie, thalassemia major) causes severe, transfusion-dependent anemia. ... Beta thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of beta- ... encoded search term (Beta Thalassemia) and Beta Thalassemia What to Read Next on Medscape ... The therapeutic approach to thalassemia varies between thalassemia minor and thalassemia major. ...
FDA approves the first cell-based gene therapy to treat adult and pediatric patients with beta-thalassemia who require regular ... Beta-thalassemia is a type of inherited blood disorder that causes a reduction of normal hemoglobin and red blood cells in the ... Home Topics Genome Editing FDA Approves Bluebird Bios Lentiviral Gene Therapy to Treat Beta-Thalassemia ... Transfusion-dependent beta-thalassemia, the most severe form of the condition, generally requires life-long red blood cell ...
... part of the beta-globin gene cluster and the gene that is mutated in beta-thalassemia, a blood disease that can be fatal, ... Scientists Edit Beta-thalassemia Gene in Human Zygotes with CRISPR/Cas9 Apr 22, 2015 , staff reporter ... genome editing system in non-viable human zygotes to modify the gene that causes the hereditary blood disease beta-thalassemia. ... "We found that CRISPR/Cas9 could effectively cleave the endogenous beta-globin gene (HBB). However, the efficiency of homologous ...
Beta Thalassemia Trait (Also known as Beta Thalassemia Minor) What is beta thalassemia trait?. *Beta thalassemia affects the ... Beta thalassemia disease. People with beta thalassemia trait also can have a child with beta thalassemia disease. Beta ... Beta thalassemia trait is also known as beta thalassemia minor. If one parent has beta thalassemia trait and the other parent ... They can pass beta thalassemia trait to their children.. Why is it important to know if I have beta thalassemia trait?. Beta ...
The Cooleys Anemia Foundation is dedicated to serving people afflicted with various forms of thalassemia, most notably the ...
The beta chain of the hemoglobin molecule is affected, which contributes part of the name of this disease (there is also an a- ... thalassemia). The disease is most prevalent in the Mediterranean region; and thalassa is Greek for sea, indicating the ... Beta-thalassemia is a rare blood disorder in which hemoglobin is improperly formed due to an inherited genetic defect (mutation ... Severe β-thalassemia (major) occurs when both parents are carriers of the defect in the hemoglobin beta chain (illustrated ...
There are two main types of thalassemia: alpha thalassemia and beta thalassemi ... Thalassemia is a group of inherited blood disorders that affect the production of hemoglobin, the protein that carries oxygen ... There are two main types of beta thalassemia: "beta thalassemia minor" and "beta thalassemia major". Beta thalassemia minor ... What is Beta Thalassemia?. Beta thalassemia is where there is a reduced formation of beta polypeptide chains because of ...
Plasma levels of IL-3 and IL-7 were studied in 23 patients with homozygous beta-thalassemia in order to determine whether these ... Plasma interleukin-3 (IL-3) and IL-7 concentrations in children with homozygous beta-thalassemia J Trop Pediatr. 1997 Dec;43(6 ... Plasma levels of IL-3 and IL-7 were studied in 23 patients with homozygous beta-thalassemia in order to determine whether these ... controls and it was suggested that IL-7 is not a cytokine involved in cellular immunological alterations in beta-thalassemia. ...
Difference Between Alpha Thalassemia and Beta Thalassemia. Difference Between Alpha Thalassemia and Beta Thalassemia. ...
Blood transfusions are required for beta-thalassemia intermedia and major, but are associated with iron overload complications ... Genetic syndrome of ineffective erythropoiesis caused by mutations of the beta-globin gene. Spectrum of severity from ... Beta-thalassemia is an inherited microcytic anemia caused by mutation(s) of the beta-globin gene leading to decreased or absent ... Compound heterozygosity of beta-thalassemia with hemoglobin E mutations results in a phenotype more severe than either beta- ...
... "extramedullary-haematopoiesis-beta-thalassaemia-major-1","modality":"CT","series":[{"id":52080901,"content_type":"image/jpeg"," ... all part of the underlying beta-thalassemia major. ... This case demonstrates an array of findings of beta-thalassemia ... Rasuli B, Extramedullary hematopoiesis - beta-thalassemia major. Case study, Radiopaedia.org (Accessed on 30 Nov 2023) https:// ...
444 had developed beta-thalassemia, and 457 had iron deficiency anemia or were affected by other causes of microcytosis and ... To assess the state of iron deficiency anemia and thalassemia minor among couples intending to marry at the Molla Hadi ... Discrimination of beta-thalassemia minor and iron deficiency anemia by screening test for red blood cell indices ... BATEBI, AZIZ; POURREZA, ABOLGHASEM; and ESMAILIAN, REZA (2012) "Discrimination of beta-thalassemia minor and iron deficiency ...
HbE-beta thalassemia has a wide clinical heterogeneity, ranging from asymptomatic to severe transfusion-dependent thalassemia. ... Beta-Thalassemia Presenting as Moyamoya Syndrome With a Review of Skeletal Manifestations. ... Keywords: Choreoathetoid movement, hemoglobin E-beta thalassemia, Moyamoya syndrome. How to cite this article:. Doctor P N, ... We describe a case of a 25-year-old female with hemoglobin E-beta thalassemia who had a rare presentation of MMS in the form of ...
Natural Immunity Against Haemophilus influenza Type B in Splenectomised Beta-thalassaemia Children ... Patients with beta-thalassaemia major (Cooley anaemia) have an increased risk of serious infections (Eigenberger et al., 2007 ... Patients with beta-thalassaemia major and asplenia have an increased risk of encapsulated bacterial infections. The aim of this ... Natural Immunity Against Haemophilus influenza Type B in Splenectomised Beta-thalassaemia Children. Pakistan Journal of ...
Disease modifying capacity in mouse model of transfusion-independent beta-thalassemia intermedia assessed as decrease in spleen ...
Disease modifying capacity in mouse model of transfusion-independent beta-thalassemia intermedia assessed as decrease in RDW ...
Gall bladder contractility in children with beta-thalassaemia ... Beta-thalassaemia is a disease of the chronic haemolytic state ... suggested that the beta-thalassaemia genotype associated with Gilbert syndrome is a risk factor for development of gallstones ... in their adult beta-thalassaemia patients [20].. Emptying time was significantly prolonged in our patients compared with ... In beta-thalassaemia, excessive production of bilirubin from chronic haemolysis is a prerequisite for formation of pigment ...
We just knew that she is patient with HBE Beta Thalassemia. my doctor said to us we have to start transfusion. Although she is ... Re: E/Beta Thalassemia « Reply #1 on: September 30, 2019, 11:33:14 PM » ... Re: E/Beta Thalassemia « Reply #2 on: October 04, 2019, 07:09:40 PM » ... Re: E/Beta Thalassemia « Reply #3 on: October 14, 2019, 02:29:59 PM » ...
Methods This multicentric cross-sectional study included a total of 120 beta-thalassemia patients. The sexual development of ... Elevated serum ferritin levels in beta-thalassemia patients represent various transfusion-related complications including ... Elevated serum ferritin levels were moderately sensitive and specific in predicting sexual underdevelopment in beta-thalassemia ... specific to predict sexual underdevelopment in beta-thalassemia patients. Conclusions ...
Beta thal trait, sometimes called beta thalassemia minor, is a mild form of beta thalassemia. In beta thalassemia trait, there ... Will beta thalassemia trait make my baby sick?. No. Beta thalassemia trait, beta thal trait for short, is not an illness. Your ... If a baby got one beta thalassemia gene from one parent and another beta thalassemia gene from the other parent, she would have ... There are mild, moderate, and severe forms of thalassemia. Beta thal trait is a mild form of thalassemia. Beta thal trait is ...
Learn more about beta-thalassemia and ZYNTEGLO. See Important Safety Information. ... What is beta-thalassemia?. Beta-thalassemia is a genetic disease thats caused by a change (or mutation) in the beta-globin ... Beta-thalassemia is caused by a change in the beta-globin gene, which causes the body to produce reduced or no beta-globin. ... ZYNTEGLO is a one-time gene therapy to treat beta-thalassemia (also known as beta-thalassemia major or Cooleys Anemia) in ...
Beta thalassemia minor is made of alpha thalassemia, beta thalassemia Trait/Minor beta thalassemia minor is made the! So this ... Beta thalassemia minor is made of alpha thalassemia, beta thalassemia Trait/Minor beta thalassemia minor is made the! So this ... beta minor... The deficiency of beta thalassemia Trait/Minor beta thalassemia types are alpha thalassemia, beta Trait/Minor. ... beta minor... The deficiency of beta thalassemia Trait/Minor beta thalassemia types are alpha thalassemia, beta Trait/Minor. ...
La Jolla begins clinical trial of LJPC-401 for beta-thalassemia. La Jolla Pharmaceutical Company has started a pivotal clinical ... to treat patients with transfusion-dependent beta-thalassemia who have cardiac iron levels above normal, despite chelation ... to treat patients with transfusion-dependent beta-thalassemia who have cardiac iron levels above normal, despite chelation ...
Pathogenesis of Beta Thalassemia and Associated Hemoglobinopathies. Pathogenesis of Beta Thalassemia. Pathogenesis of Beta ...
  • Three main forms have been described: thalassemia minor, thalassemia intermedia, and thalassemia major which vary from asymptomatic or mild symptoms to severe anemia requiring lifelong transfusions. (wikipedia.org)
  • Those with beta thalassemia intermedia (those who are compound heterozygotes for the beta thalassemia mutation) usually present later in life with mild to moderate symptoms of anemia. (wikipedia.org)
  • These complications are mostly found in thalassemia major and intermedia patients. (wikipedia.org)
  • Additional symptoms of beta thalassemia major or intermedia include the classic symptoms of moderate to severe anemia including fatigue, growth and developmental delay in childhood, leg ulcers and organ failure. (wikipedia.org)
  • Beta thalassemia is classified into two types depending on the severity of symptoms: thalassemia major (also known as transfusion-dependent thalassemia or Cooley's anemia) and thalassemia intermedia (which is a non-transfusion-dependent thalassemia). (medlineplus.gov)
  • Thalassemia intermedia is milder than thalassemia major. (medlineplus.gov)
  • The signs and symptoms of thalassemia intermedia appear in early childhood or later in life. (medlineplus.gov)
  • people with both types have been diagnosed with thalassemia major and thalassemia intermedia. (medlineplus.gov)
  • Patients in whom the clinical severity of the disease lies between that of thalassemia major and thalassemia minor are categorized as having thalassemia intermedia . (medscape.com)
  • Several different genotypes are associated with thalassemia intermedia. (medscape.com)
  • Blood transfusions are required for beta-thalassemia intermedia and major, but are associated with iron overload complications. (bmj.com)
  • Compound heterozygosity of beta-thalassemia with hemoglobin E mutations results in a phenotype more severe than either beta-thalassemia trait or hemoglobin E mutations alone, similar to beta-thalassemia major or intermedia. (bmj.com)
  • 1. Is he Thalassemia Major or Intermedia? (thalassemiapatientsandfriends.com)
  • Thalassemia Intermedia There is the deficiency of beta globin production in the body which leads to significant illness. (athletesandinjuries.com)
  • If the person has two mutated genes that code for reduced beta globin chain synthesis, then they're said to have beta thalassemia intermedia. (osmosis.org)
  • If two genes (one from each parent) are affected - it results in Thalassemia major/ intermedia. (seedsofinnocens.com)
  • If you have beta-thalassemia major or intermedia, you will pass the affected gene on to your baby. (seedsofinnocens.com)
  • If your partner has a beta-thalassemia major or intermedia or is a carrier, there is a chance that your baby will have a beta-thalassemia major. (seedsofinnocens.com)
  • People with beta-thalassemia major and intermedia should be monitored through regular hematological evaluations. (beta-thalassemia.com)
  • Beta-thalassemia Major & Intermedia Stem cell transplantation can cure people with beta-thalassemia major, but since this procedure is associated with risks of death and difficulties in matching donors, it is usually limited only to people with severe thalassemia. (beta-thalassemia.com)
  • People with beta-thalassemia intermedia have less severe symptoms, and may only need transfusions occasionally. (beta-thalassemia.com)
  • Peripheral blood film in thalassemia intermedia. (medscape.com)
  • [ 1 ] In beta thalassemia intermedia, hemoglobin analysis reveals elevated levels of HbF and HbA2. (medscape.com)
  • The diagnosis of beta thalassemia intermedia does not always require DNA-based genotyping, but such analysis may aid in recognizing complex thalassemias such as delta-beta and gamma-delta-delta thalassemia. (medscape.com)
  • [ 1 ] Genetic analysis may also help to differentiate thalassemia intermedia from thalassemia major. (medscape.com)
  • For example, the presence of IVSI‐5 homozygous with Xmn‐1 is a strong indicator of thalassemia intermedia, but genetic heterogeneity means that this method is not in routine use. (medscape.com)
  • Yathiraj PH, Singh A, Vidyasagar S, Varma M, Mamidipudi V. Excellent and durable response to radiotherapy in a rare case of spinal cord compression due to extra-medullary hematopoiesis in β-thalassemia intermedia: case report and clinicoradiological correlation. (medscape.com)
  • Evaluation of the Clinical and Laboratory Characteristics of Previously Followed-up Thalassemia Intermedia Patients to Provide Them Better Care in the Future. (medscape.com)
  • Heterozygotes for this deletion have about 25% Hb F with a G gamma:A gamma ratio of 70:30 while interaction with beta+ thalassaemia results in the clinical picture of thalassaemia intermedia. (ox.ac.uk)
  • People with beta thalassemia trait do not have beta thalassemia disease or sickle cell disease. (stjude.org)
  • Parents who have beta thalassemia trait can have a child with beta thalassemia disease or sickle cell disease (Sβ+ Thalassemia or Sβ0 thalassemia disease). (stjude.org)
  • Sickle beta thalassemia disease is a type of sickle cell disease. (stjude.org)
  • Beta thalassemia disease is not a form of sickle cell disease, but it is a serious lifelong illness. (stjude.org)
  • For example, if a baby gets the beta thalassemia gene from one parent and the sickle cell gene from the other, the baby will have a form of sickle cell disease called S-beta thalassemia, which requires special medical attention. (andorrapediatrics.com)
  • This technology includes lentivirus vectors to be used to treat sickle cell disease and beta thalassemia. (nih.gov)
  • i) Lin28A or Lin28B vectors designed for erythroid-specific expression using EKLF1, SPTA1, or similar erythroid-specific regulatory elements will be used to transduce hematopoietic stem cells isolated from humans with sickle cell disease or beta-thalassemia syndromes. (nih.gov)
  • ii) Lentiviral vectors or other means of delivery for tough decoy inhibitors or other means of reducing the expression of the most critical Let-7 mRNA will be used to transduce hematopoietic stem cells isolated from humans with sickle cell disease or beta-thalassemia syndromes. (nih.gov)
  • Treatment for sickle cell disease and beta thalassemia. (nih.gov)
  • Potential life-long therapy for sickle cell disease and beta thalassemia with a single autologous transfusion of corrected erythrocytes expressing therapeutic levels of HbF. (nih.gov)
  • Oxidative stress and inflammation in iron-overloaded patients with ß-thalassemia or sickle cell disease. (ejournals.ca)
  • Approximately 5% of the world's population carries trait genes for haemoglobin disorders, mainly, sickle-cell disease and thalassaemia. (who.int)
  • Beta thalassemia trait (also known as beta thalassemia minor) involves heterozygous inheritance of a beta-thalassemia mutation and patients usually have borderline microcytic, hypochromic anemia and they are usually asymptomatic or have mild symptoms. (wikipedia.org)
  • In the heterozygous state, the beta thalassemia trait (ie, thalassemia minor) causes mild to moderate microcytic anemia. (medscape.com)
  • In beta thalassemia minor (ie, beta thalassemia trait or heterozygous carrier-type), one of the beta-globin genes is defective, resulting in an approximately 50% decrease in the synthesis of the beta-globin protein. (medscape.com)
  • People with beta thalassemia trait have both normal hemoglobin A and the abnormal beta thalassemia (β) hemoglobin in their red blood cells. (stjude.org)
  • They can pass beta thalassemia trait to their children. (stjude.org)
  • Why is it important to know if I have beta thalassemia trait? (stjude.org)
  • Beta thalassemia trait is inherited from one's parents, like hair or eye color. (stjude.org)
  • Normally, beta thalassemia trait does not cause any health problems. (stjude.org)
  • Beta thalassemia trait is also known as beta thalassemia minor. (stjude.org)
  • If one parent has beta thalassemia trait and the other parent has normal hemoglobin A, there is a 50 percent (1 in 2) chance with each pregnancy of having a child with beta thalassemia trait . (stjude.org)
  • This is why it is important to understand how beta thalassemia trait is passed on, and how it can affect the health of your children and grandchildren. (stjude.org)
  • People with beta thalassemia trait also can have a child with beta thalassemia disease. (stjude.org)
  • What if both parents have beta thalassemia trait? (stjude.org)
  • If both parents have beta thalassemia trait there is a 25 percent (1 in 4) chance with each pregnancy of having a child with Beta Thalassemia disease . (stjude.org)
  • Will beta thalassemia trait make my baby sick? (andorrapediatrics.com)
  • No. Beta thalassemia trait, beta thal trait for short, is not an illness. (andorrapediatrics.com)
  • Your baby will not have to get special medical care because of beta thal trait. (andorrapediatrics.com)
  • Beta thal trait may be diagnosed when a child has a routine complete blood count (CBC). (andorrapediatrics.com)
  • Beta thal trait is a mild form of thalassemia. (andorrapediatrics.com)
  • Beta thal trait is found equally in both boys and girls. (andorrapediatrics.com)
  • How did my baby get beta-thal trait? (andorrapediatrics.com)
  • She inherited beta thal trait the same way she got the color of her eyes, the shape of her nose and the texture of her hair. (andorrapediatrics.com)
  • Beta thalassemia trait - what does that really mean? (andorrapediatrics.com)
  • In beta thalassemia trait, there is enough beta globin for normal health. (andorrapediatrics.com)
  • Beta thalassemia trait is more common in people of Mediterranean, Asian, Middle Eastern, or African origins. (andorrapediatrics.com)
  • The elevated Hgb A2 and Hgb F suggest beta-thalassemia trait. (athletesandinjuries.com)
  • Beta Thalassemia Trait/Minor Beta thalassemia minor is a common condition which is symptomless most of the time. (athletesandinjuries.com)
  • Hb H) beta trait is a beta ° ones. (athletesandinjuries.com)
  • greater than 13 indicates an iron deficiency or anemia of inflammation with alpha thalassemia trait. (athletesandinjuries.com)
  • Beta Thalassemia minor/ trait - asymptomatic/ mild anaemia carries the abnormal gene and transmits it to the next generation. (seedsofinnocens.com)
  • People who have alpha or beta thalassemia trait can have mild anemia. (emirates247.com)
  • 1982). Symptomatic beta thalassemia trait (A study of 143 cases. (accscience.com)
  • 2005). Spectrum of beta-thalassemia mutations in North Indian states: A beta-thalassemia trait with two mutations in cis. (accscience.com)
  • These patients have alpha-thalassemia trait. (msdmanuals.com)
  • Beta thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of beta-globin chains. (medscape.com)
  • Peripheral smear in beta-zero thalassemia minor showing microcytes (M), target cells (T), and poikilocytes.The genetic defect usually is a missense or nonsense mutation in the beta-globin gene, although occasional defects due to gene deletions of the beta-globin gene and surrounding regions also have been reported. (medscape.com)
  • The Cooley's Anemia Foundation is dedicated to serving people afflicted with various forms of thalassemia, most notably the major form of this genetic blood disease, Cooley's anemia/thalassemia major. (chop.edu)
  • β-thalassemia is a rare blood disorder in which hemoglobin is improperly formed due to an inherited genetic defect (mutation). (itmonline.org)
  • Causes and Risk Factors − This is inherited and is due to some type of genetic change (mutation) that has occurred in the beta globin genes. (tutorialspoint.com)
  • Genetic syndrome of ineffective erythropoiesis caused by mutations of the beta-globin gene. (bmj.com)
  • A 25-year-old female, diagnosed with hemoglobin E (HbE)-beta thalassemia at 4 years of age by genetic testing, requiring monthly packed red blood cell transfusion (transfusion dependent) had Xmn1 polymorphism +/-genotype. (jpgmonline.com)
  • Thalassaemia is among the most common genetic diseases worldwide ( Quirolo and Vichinnky, 2007 ) and constitutes a major health problem. (scialert.net)
  • Beta-thalassemia is a genetic disease that's caused by a change (or mutation) in the beta-globin gene. (zynteglo.com)
  • Regular transfusions address the symptoms of beta-thalassemia, but do not treat it at the genetic level. (zynteglo.com)
  • Alpha thalassemia, which is characterized by genetic defects in the alpha-globin gene, is another known cause of mild microcytic anemia and has features similar to those of beta thalassemia. (athletesandinjuries.com)
  • Beta thalassemia is a genetic disorder where there's a deficiency in production of the β-globin chains of hemoglobin, which is the oxygen-carrying protein in red blood cells - or RBCs for short. (osmosis.org)
  • Thalassemia is the most common inherited(genetic) blood disorder, in which patients is unable to generate sufficient red blood cells and needs regular blood transfusions (every 2-3 weeks) to survive. (seedsofinnocens.com)
  • A molecular genetic test (DNA analysis) is used to confirm mutations in beta globin-producing genes. (seedsofinnocens.com)
  • Beta Thalassemia Screening is a blood test that is used to detect the presence of beta thalassemia, a genetic blood disorder that affects the production of hemoglobin. (healthcarentsickcare.com)
  • In conclusion, if you suspect any genetic blood disorders or have a family history of beta thalassemia, book your Beta Thalassemia Screening test online with healthcare nt sickcare. (healthcarentsickcare.com)
  • Beta-thalassemia (β-thalassemia) or beta-thal, is a genetic disease characterized by anemia, a condition which results from a shortage of healthy red blood cells (RBCs). (bluebirdbio.com)
  • Thalassemia is diagnostically confirmed via hemoglobin analysis and genetic testing. (medscape.com)
  • Thalassemia is a genetic disorder which until now has become a global health problem. (ejournals.ca)
  • Beta-thalassemia is a rare genetic blood disease caused by mutations in the beta-globin gene and is characterized by significantly reduced or absent adult hemoglobin production. (globalgenes.org)
  • Thalassemia is a dreadful heritable hemolytic disease, characterized by a genetic mutation in the hemoglobin subunit beta (HBB) gene. (accscience.com)
  • 2004). Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene. (accscience.com)
  • SOMERVILLE, Mass. --(BUSINESS WIRE)--Aug. 17, 2022-- bluebird bio, Inc. (Nasdaq: BLUE) today announced the U.S. Food and Drug Administration (FDA) has approved ZYNTEGLO ® (betibeglogene autotemcel), also known as beti-cel, a one-time gene therapy custom-designed to treat the underlying genetic cause of beta‑thalassemia in adult and pediatric patients who require regular red blood cell (RBC) transfusions. (bluebirdbio.com)
  • Most often, mutations occur in the promoter regions preceding the beta-globin genes. (wikipedia.org)
  • Mutations in globin genes cause thalassemias . (medscape.com)
  • Beta thalassemia affects one or both of the beta-globin genes. (medscape.com)
  • In beta thalassemia major (ie, homozygous beta thalassemia), the production of the beta-globin chains is severely impaired because both beta-globin genes are mutated. (medscape.com)
  • when both genes are affected, the disease is called β-thalassemia major. (itmonline.org)
  • Alpha thalassemia is the condition where there is a reduced formation of alpha polypeptide chains because of an absence of alpha genes. (tutorialspoint.com)
  • There are two forms of alpha thalassemia depending on what genes are missing. (tutorialspoint.com)
  • Beta thalassemia is where there is a reduced formation of beta polypeptide chains because of mutations in the beta globin genes that occur on chromosome 11. (tutorialspoint.com)
  • Alpha thalassemia is caused by mutations in the genes that control the production of alpha globin, one of the two types of protein chains that make up hemoglobin. (tutorialspoint.com)
  • 3. In this form of beta thalassemia, two defective genes are passed to the child and the child has no normal beta.chain gene. (athletesandinjuries.com)
  • Thalassemia is an inherited blood disorder that is passed down through the parent's genes. (athletesandinjuries.com)
  • Beta-Thalassemia minor often has a high number of Hgb A2 hemoglobin the person is lacking genes. (athletesandinjuries.com)
  • Terms alpha and beta thalassemia, beta thalassemia minor parent ' s genes a high number of Hgb A2 and. (athletesandinjuries.com)
  • Of anemia, especially microcytic anemia through the parent ' s genes are alpha thalassemia and beta minor. (athletesandinjuries.com)
  • Thalassemia is caused by variant or missing genes that affect how the body makes hemoglobin, the protein in red blood cells that carries oxygen. (osmosis.org)
  • Starting 3 kilobases from the 3' end of the A gamma gene, the deletion removes the delta and beta globin genes and continues to an unknown extent in the 3' direction. (ox.ac.uk)
  • Alpha-thalassemia results from decreased production of alpha-polypeptide chains due to a deletion of one or more alpha genes. (msdmanuals.com)
  • There are two beta globin genes, and patients may have heterozygous, homozygous, or compound heterozygous mutations. (msdmanuals.com)
  • In addition, patients may be heterozygous or homozygous for abnormalities in 2 different globin genes (eg, beta and delta). (msdmanuals.com)
  • those who inherit a beta thalassemic mutation but have no hematologic abnormalities nor symptoms. (wikipedia.org)
  • The signs and symptoms of thalassemia major appear within the first 2 years of life. (medlineplus.gov)
  • Many people with thalassemia major have such severe symptoms that they need frequent blood transfusions to replenish their red blood cell supply. (medlineplus.gov)
  • In these cases, one copy of the altered gene in each cell is sufficient to cause the signs and symptoms of beta thalassemia. (medlineplus.gov)
  • Individuals with few problems with beta globulin production are often silent carriers who show no symptoms. (tutorialspoint.com)
  • Major beta thalassemia (Cooley's anemia), occurs when there are severe symptoms such as problems with the bone marrow, and severe anemia. (tutorialspoint.com)
  • However, sometimes the symptoms of beta zero thalassemia are more severe. (healthline.com)
  • Beta-thalassemia Minor People with Beta-thalassemia minor typically do not have symptoms other than a chance of developing mild anemia. (beta-thalassemia.com)
  • Symptoms of severe anemia manifest early in life and most people with the severe form of beta-thal - those who rely on regular blood transfusions - are typically diagnosed in childhood. (bluebirdbio.com)
  • Despite advances in treatment and improved transfusion techniques, transfusions only temporarily address symptoms of anemia and people with beta-thalassemia who require regular transfusions have an increased risk for morbidity and mortality due to treatment- and disease-related iron overload and its complications. (globalgenes.org)
  • However, many people who have these types of thalassemia have no signs or symptoms. (emirates247.com)
  • beta) results in ineffective erythropoiesis and severe microcytic hypochromic anemia. (medscape.com)
  • Beta-thalassemia is an inherited microcytic anemia caused by mutation(s) of the beta-globin gene leading to decreased or absent synthesis of beta-globin, resulting in ineffective erythropoiesis. (bmj.com)
  • Thalassemia is a common cause of anemia, especially microcytic anemia. (athletesandinjuries.com)
  • Anemia, especially microcytic anemia thalassemia: alpha and beta thalassemia minor is a common condition is. (athletesandinjuries.com)
  • β-thalassemia is an inherited microcytic, hypochromic anemia which occurs in Mediterranean populations. (picmonic.com)
  • Lab results in patient with beta thalassemia show a microcytic, hypochromic anemia. (picmonic.com)
  • People with thalassemia make less hemoglobin and have fewer circulating red blood cells than normal, which results in mild or severe microcytic anemia . (osmosis.org)
  • Thalassemias are a group of inherited microcytic, hemolytic anemias characterized by defective hemoglobin synthesis. (msdmanuals.com)
  • Due to this factor, the patient may require blood transfusions to make up for the blockage in the beta-chains. (wikipedia.org)
  • The primary management of severe anemia in β thalassemia is regular red cell transfusions. (cdc.gov)
  • The FDA has approved Bluebird Bio's Zynteglo as the first cell-based gene therapy for the treatment of adult and pediatric patients with beta-thalassemia who require regular red blood cell transfusions. (genengnews.com)
  • Today's approval is an important advance in the treatment of beta-thalassemia, particularly in individuals who require ongoing red blood cell transfusions," said Peter Marks, MD, PhD, director of the FDA's Center for Biologics Evaluation and Research. (genengnews.com)
  • Transfusion-dependent beta-thalassemia, the most severe form of the condition, generally requires life-long red blood cell transfusions as the standard course of treatment. (genengnews.com)
  • The FDA approval of Zynteglo offers people with beta-thalassemia the possibility of freedom from burdensome regular red blood cell transfusions and iron chelation, and unlocks new possibilities in their daily lives," said Andrew Obenshain, CEO of Bluebird Bio. (genengnews.com)
  • The safety and effectiveness of Zynteglo were established in two multicenter clinical studies that included adult and pediatric patients with beta-thalassemia requiring regular transfusions. (genengnews.com)
  • If you have a child or loved one with beta-thalassemia who requires regular transfusions, have you talked to them about their goals for the future? (zynteglo.com)
  • β-thalassemia major, or Cooley's anemia, is more severe and patients need regular blood transfusions, which may lead to a secondary hemochromatosis. (picmonic.com)
  • There are three general treatments for people with moderate to severe thalassemia, including blood transfusions, iron chelation therapy and folic acid supplements. (beta-thalassemia.com)
  • Blood transfusion Blood transfusions can be used to treat people with beta-thalassemia by providing them with healthy red blood cells containing normal hemoglobin. (beta-thalassemia.com)
  • However, since the lifespan for normal red blood cells is only around 4 months, people with beta-thalassemia major will need regular blood transfusions to maintain normal hemoglobin levels. (beta-thalassemia.com)
  • In the most severe form of beta-thal, also referred to as transfusion dependent thalassemia (TDT), patients require lifelong regular red blood cell transfusions to survive. (bluebirdbio.com)
  • To treat chronic anemia, the hallmark symptom of severe beta-thal, patients currently depend on regular blood transfusions-as often as every 3-4 weeks. (bluebirdbio.com)
  • The burden can be staggering: individuals with beta-thal who require regular transfusions spend ​an average of 9.8 hours, every 3-4 weeks in a hospital to receive the blood transfusions necessary for survival. (bluebirdbio.com)
  • Before receiving beti-cel, the patients, who had a broad range of thalassemia genotypes, were receiving between 10 and almost 40 red blood cell transfusions per year, she reported. (mdedge.com)
  • The U.S. Food and Drug Administration's Cellular, Tissue, and Gene Therapies Advisory Committee unanimously supported approval of the company's gene therapy beti-cel for the treatment of people with beta-thalassemia who require regular red blood cell transfusions. (globalgenes.org)
  • Despite advances in care, people living with the most severe form of beta-thalassemia still require frequent transfusions of healthy red blood cells to survive, tethering them to the healthcare system for life and increasing their risk for severe complications and early death," said Andrew Obenshain, CEO of Bluebird bio. (globalgenes.org)
  • Additionally, as of the latest data cutoff date (August 2021), data from bluebird bio's clinical development program represent 240 patient-years of experience with beti-cel and the longest available follow-up data in beta-thalassemia patients requiring regular RBC transfusions treated with a one-time gene therapy. (globalgenes.org)
  • Beti-cel is a one-time gene therapy custom-designed to treat the underlying cause of beta-thalassemia in patients who require regular red blood cell transfusions. (globalgenes.org)
  • Patients with the most severe form, sometimes called transfusion-dependent beta-thalassemia or beta-thalassemia major, experience severe anemia and lifelong dependence on regular red blood cell transfusions, a lengthy process that patients typically undergo every 2-5 weeks. (bluebirdbio.com)
  • The Cooley's Anemia Foundation applauds the FDA's approval of ZYNTEGLO for people with beta‑thalassemia who require regular red blood cell transfusions. (bluebirdbio.com)
  • ZYNTEGLO works by adding functional copies of a modified form of the beta-globin gene (β A-T87Q- globin gene) into a patient's own hematopoietic (blood) stem cells (HSCs) to allow them to make normal to near normal levels of total hemoglobin without regular RBC transfusions. (bluebirdbio.com)
  • They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to clinically asymptomatic individuals. (wikipedia.org)
  • There are mild, moderate, and severe forms of thalassemia. (andorrapediatrics.com)
  • Individuals with beta thalassemia major (those who are homozygous for thalassemia mutations, or inheriting 2 mutations) usually present within the first two years of life with symptomatic severe anemia, poor growth, and skeletal abnormalities. (wikipedia.org)
  • In the homozygous state, beta thalassemia (ie, thalassemia major) causes severe, transfusion-dependent anemia . (medscape.com)
  • These mutations, by causing impaired synthesis of the beta-globin protein component of Hb, result in anemia. (medscape.com)
  • β thalassemia is caused by β-globin gene variants that reduce the production of adult hemoglobin (HbA) which may cause anemia. (cdc.gov)
  • Chronic anemia can have serious consequences for people with β thalassemia. (cdc.gov)
  • Beta Thalassemia Major (also known as Cooley's anemia). (stjude.org)
  • Diagnosis − Beta thalassemia is diagnosed by looking for hemolytic anemia by examining a red blood cell smear under the microscope. (tutorialspoint.com)
  • Discrimination of beta-thalassemia minor and iron deficiency anemia by" by AZIZ BATEBI, ABOLGHASEM POURREZA et al. (tubitak.gov.tr)
  • To assess the state of iron deficiency anemia and thalassemia minor among couples intending to marry at the Molla Hadi Sabzevari Health Clinic in Isfahan, Iran. (tubitak.gov.tr)
  • Of these 901 persons, 444 had developed beta-thalassemia, and 457 had iron deficiency anemia or were affected by other causes of microcytosis and hypochromia. (tubitak.gov.tr)
  • Thalassemia Major or Cooley's Anemia. (athletesandinjuries.com)
  • Marion A. Koerper, MD UCSF School of Medicine San Francisco, CA. Thalassemia can cause mild or severe anemia. (athletesandinjuries.com)
  • thalassaemia ), also called Mediterranean anemia, is a form of inherited autosomal recessive blood disorder characterized by abnormal formation of hemoglobin. (osmosis.org)
  • During pregnancy, illness or infection, there is a higher chance of triggering or aggravating anemia in people with beta-thalassemia. (beta-thalassemia.com)
  • The primary purpose of this study is to compare the effect of mitapivat versus placebo on anemia in participants with alpha- or beta-non-transfusion dependent thalassemia (NTDT). (ucsd.edu)
  • Study results found in thalassemia-including negative Coombs testing, low haptoglobin, elevated lactate dehydrogenase, and elevated indirect bilirubin-are also derived in nonimmune hemolytic anemia. (medscape.com)
  • Data from the Cooley's Anemia Foundation indicate that the median age of death of U.S. transfusion-dependent beta-thalassemia patients who died during the last decade was just 37 years. (globalgenes.org)
  • Mass spectrometry, a newer analytical technology, may be used to identify highly unstable hemoglobins that may manifest clinically as hemolytic anemia or thalassemia. (medscape.com)
  • Some people with thalassemia are susceptible to health complications that involve the spleen (hypersplenism) and gallstones (due to hyperbilirubinemia from peripheral hemolysis). (wikipedia.org)
  • Compared with other anemias, people with thalassemia can be symptomatic at a higher hemoglobin level. (cdc.gov)
  • People with thalassemia do not make enough hemoglobin. (andorrapediatrics.com)
  • People with Thalassemia need moral, social and financial support as well as training and rehabilitation. (emirates247.com)
  • Early detection and management of beta thalassemia can help prevent complications and ensure a better quality of life. (healthcarentsickcare.com)
  • People with the most severe form of beta-thal live their lives tethered to the healthcare system and face serious complications. (bluebirdbio.com)
  • Bakr A, Al-Tonbary Y, Osman G, El-Ashry R. Renal complications of βâ€'thalassemia major in children. (ejournals.ca)
  • The main cardiac abnormalities seen as a result of beta thalassemia and iron overload include left ventricular systolic and diastolic dysfunction, pulmonary hypertension, valvulopathy, arrhythmias, and pericarditis. (wikipedia.org)
  • Cardiomegaly, prominent main pulmonary artery (44 mm), splenectomy and high attenuation liver (iron overload) - all part of the underlying beta-thalassemia major. (radiopaedia.org)
  • In September last year, La Jolla reported positive results from a Phase l study of LJPC-401 carried out in patients at-risk of iron overload and suffering from hereditary hemochromatosis, thalassemia, and SCD. (clinicaltrialsarena.com)
  • In patients with transfusion-dependent beta-thalassemia, a single gene therapy infusion is capable of yielding durable transfusion independence and substantial improvements in iron overload , an investigator reported at the annual meeting of the American Society of Hematology. (mdedge.com)
  • In young patients with transfusion-dependent beta-thalassemia (TDT), the use of early-start deferiprone appeared to be well tolerated and was associated with efficacy in reducing iron overload, according to the results of a recent study. (hematologyadvisor.com)
  • Using data from the IQVIA Medical Research Database, researchers identified 21,166 iron overload patients aged 18 years and older who saw a general practitioner in the UK between 2010 and 2020 and had a serum ferritin level above 1000 µg/L or a diagnostic code for hemochromatosis or non-anemic thalassemia. (medscape.com)
  • Beta thalassemia is common in people of African, Mediterranean, Asian and Middle Eastern descent. (stjude.org)
  • Beta thalassemia is more commonly found in people who are of Southeast Asian, African or Mediterranean descent. (tutorialspoint.com)
  • Alpha thalassemia is common in people of African, Southern Chinese, Southeast Asian, Middle Eastern and Mediterranean descent. (athletesandinjuries.com)
  • Beta thalassemia is most commonly seen in Mediterranean, African and South East Asian populations. (osmosis.org)
  • Beta Thalassemia Mutation detection - Blood ( 5 common mutations ): is an autosomal recessive disorder more common in people of Mediterranean and Middle Eastern. (bajajfinservhealth.in)
  • Alpha-thalassemia is particularly common among people with African, Mediterranean, or Southeast Asian ancestry. (msdmanuals.com)
  • Beta-thalassemia is more common among people with Mediterranean, Middle Eastern, Southeast Asian, or Indian ancestry. (msdmanuals.com)
  • Treatment for patients with thalassemia major includes long-term transfusion therapy, iron chelation, splenectomy, allogeneic hematopoietic stem cell transplantation, gene therapy, and supportive measures. (medscape.com)
  • Allogeneic hematopoietic transplantation may be curative in some patients with thalassemia major. (medscape.com)
  • The Thalassemia Transfusion Resources were supported by cooperative agreement number CDCRFA-DD19-1903, funded by the Centers for Disease Control and Prevention (CDC). (cdc.gov)
  • 2006). Prenatal diagnosis of beta-thalassemia in Southern Punjab, Pakistan. (accscience.com)
  • The transfusion management of beta thalassemia in the United States. (cdc.gov)
  • The materials have been developed as a supplemental (user-friendly) resource for healthcare providers, blood banks, and persons with thalassemia and their families to provide key information from a recent evidence-based report that details recommendations for the transfusion management of beta thalassemia in the United States. (cdc.gov)
  • This century has seen a revolution the management of beta-thalassemia major. (bvsalud.org)
  • One study shows luspatercept was helpful for patients with beta thalassemia, while the other focuses on myelodysplastic syndromes. (hematology.org)
  • Treatment for beta-thalassemia varies depending on the severity of the disorder. (beta-thalassemia.com)
  • Treatment of thalassemia depends on the type and severity. (emirates247.com)
  • Clinical features of thalassemias are similar but vary in severity depending on the amount of normal hemoglobin present. (msdmanuals.com)
  • Beta thalassemia is inherited as an autosomal recessive disorder. (medscape.com)
  • Thalassemia is an autosomal recessive blood disorder . (seedsofinnocens.com)
  • We studied gall bladder contractility in 61 children with beta-thalassaemia who were asymptomatic for gall bladder disease and 51 sex- and age-matched controls in Cairo, Egypt, using real-time ultrasonography. (who.int)
  • Since the first successful gene therapy for thalassemia major, in 2007, researchers have worked to improve the efficacy and safety of the procedure. (medscape.com)
  • As the first ex vivo lentiviral vector gene therapy approved in the U.S. for the treatment of people with beta-thalassemia, we are ushering in a new era in which gene therapy has the potential to transform existing treatment paradigms for diseases that currently carry a lifelong burden of care. (genengnews.com)
  • The approval of ZYNTEGLO is the culmination of nearly 10 years of clinical research of gene therapy in patients with transfusion-dependent beta-thalassemia. (bluebirdbio.com)
  • Testing of hemoglobin can be done and with severe beta thalassemia the hemoglobin would be low, less than 6 g/dL. (tutorialspoint.com)
  • If a baby got one beta thalassemia gene from one parent and another beta thalassemia gene from the other parent, she would have severe beta thalassemia. (andorrapediatrics.com)
  • Look carefully at the inheritance pattern for the possibilities of having a baby with severe beta thalassemia. (andorrapediatrics.com)
  • Plasma levels of IL-3 and IL-7 were studied in 23 patients with homozygous beta-thalassemia in order to determine whether these cytokines are involved in abnormalities in erythropoiesis and immune responses as observed in thalassemic patients. (nih.gov)
  • Langlois S, Jason C, Cithayat D. Carrier Screening for Thalassemia and Hemoglobinopathies in Canada. (ejournals.ca)
  • There are two main types of thalassemia: alpha thalassemia and beta thalassemia. (tutorialspoint.com)
  • Has alpha thalassemia and beta are two main types of thalassemia: alpha and thalassemia! (athletesandinjuries.com)
  • Beta thalassemias (β thalassemias) are a group of inherited blood disorders. (wikipedia.org)
  • Thalassemia is a group of inherited blood disorders that affect the production of hemoglobin, the protein that carries oxygen in the blood. (tutorialspoint.com)
  • These mildly affected people are said to have thalassemia minor. (medlineplus.gov)
  • Patients with thalassemia minor usually do not require any specific treatment. (medscape.com)
  • Peripheral smear in beta-zero thalassemia minor showing microcytes (M), target cells (T), and poikilocytes. (medscape.com)
  • Peripheral smear from a patient with beta-zero thalassemia major showing more marked microcytosis (M) and anisopoikilocytosis (P) than in thalassemia minor. (medscape.com)
  • The therapeutic approach to thalassemia varies between thalassemia minor and thalassemia major. (medscape.com)
  • The therapy was said to be effective for those with β-thalassemia minor, but not for those with β-thalassemia major. (itmonline.org)
  • In a follow-up study (3), with 17 patients having β-thalassemia minor treated during 3 months starting October 1998, this grouped described the therapy as containing 12 ingredients, including cornus and millettia. (itmonline.org)
  • Also, remember that a person with beta-thalassemia minor often has a high number of Hgb A2. (athletesandinjuries.com)
  • So this child has alpha thalassemia silent carrier/beta thalassemia minor. (athletesandinjuries.com)
  • Beta thalassemia minor is a common condition which is symptomless most of the time. (athletesandinjuries.com)
  • Diagnosis for beta thalassemia minor is confirmed with increased HbA2 on hemoglobin electorphoresis. (picmonic.com)
  • If the person has just one mutated gene that codes for either a reduced production or absent production of beta globin chains, then they have beta thalassemia minor. (osmosis.org)
  • Beta thalassemia affects the hemoglobin in the red blood cells. (stjude.org)
  • Alpha thalassemia affects the amount of hemoglobin in the red blood cells. (athletesandinjuries.com)
  • La Jolla Pharmaceutical Company has started a pivotal clinical study of synthetic human hepcidin (LJPC-401) to treat patients with transfusion-dependent beta-thalassemia who have cardiac iron levels above normal, despite chelation therapy. (clinicaltrialsarena.com)
  • At this point, we believe that beti-cel is potentially curative for patients with TDT [transfusion-dependent beta-thalassemia]," Dr. Thompson said in the press conference. (mdedge.com)
  • Early-start deferiprone appeared well tolerated and efficacious in a study of young patients with transfusion-dependent beta-thalassemia. (hematologyadvisor.com)
  • The advisory committee voted unanimously that the benefits of beti-cel outweigh the risks for the treatment of subjects with transfusion-dependent beta-thalassemia. (globalgenes.org)
  • The scientists directed the CRISPR/Cas9 editing system to the human beta-globin gene HBB, part of the beta-globin gene cluster and the gene that is mutated in beta-thalassemia, a blood disease that can be fatal, depending on the specific mutation. (genomeweb.com)
  • If it was a beta zero mutation, there would be no HbA observed. (thalassemiapatientsandfriends.com)
  • This mutation means your body cannot make enough of the beta-globin protein, which is a part of hemoglobin. (zynteglo.com)
  • With beta thalassemia , there's either a partial or complete β-globin chain deficiency, due to a point mutation, which is when a single nucleotide in DNA is replaced by another nucleotide , in the beta globin gene present on chromosome 11. (osmosis.org)
  • The regular cost of Beta Thalassemia Mutation Detection - Blood ( 5 Common Mutations ) Test is ₹5200 in Mysuru, but we are offering a 5% discount, so you can book it for just ₹4940. (bajajfinservhealth.in)
  • How home sample collection for Beta Thalassemia Mutation Detection - Blood ( 5 Common Mutations ) Test in Mysuru works? (bajajfinservhealth.in)
  • What should be the next step after I receive my Beta Thalassemia Mutation detection - Blood ( 5 Common Mutations ) test report? (bajajfinservhealth.in)
  • Once you receive your Beta Thalassemia Mutation detection - Blood ( 5 Common Mutations ) test results, your physician might advise you with corrective measures if they are not in the normal range. (bajajfinservhealth.in)
  • How can I book a Beta Thalassemia Mutation detection - Blood ( 5 Common Mutations ) test near me in Mysuru? (bajajfinservhealth.in)
  • You can easily book an appointment for Beta Thalassemia Mutation detection - Blood ( 5 Common Mutations ) test on our website. (bajajfinservhealth.in)
  • Mutation in HBB gene completely halts the production of the beta-globin protein, which leads to the defective production of functional hemoglobin. (accscience.com)
  • 2013). Molecular characterization of β-thalassemia in four communities in South Gujarat--codon 30 (G → A) a predominant mutation in the Kachhiya Patel community. (accscience.com)
  • Beta-thalassemia is a type of inherited blood disorder that causes a reduction of normal hemoglobin and red blood cells in the blood, through mutations in the beta-globin subunit, leading to insufficient delivery of oxygen in the body. (genengnews.com)
  • Beta-thalassemia is caused by mutations in the beta-globin gene, resulting in reduced levels of hemoglobin. (mdedge.com)
  • 1000 µg/L is not common, and hereditary hemochromatosis or thalassemia also are very rare," she noted. (medscape.com)
  • These patients have problems synthesizing beta-globin and lead to decreased amounts of the normal hemoglobin tetramer form. (picmonic.com)
  • [ 2 ] ( Alpha thalassemia affects the alpha-globin gene[s]. (medscape.com)
  • People with beta-thalassemia major often have larger percentages of Hgb F. That is because beta-thalassemia affects the balance of alpha and beta hemoglobin chain formation greatly. (athletesandinjuries.com)
  • Hemoglobin SB+ (beta) thalassemia affects beta globin gene production. (healthline.com)
  • Students from public and private institutions across the UAE participated in competition organised to raise awareness of thalassemia, an inherited blood disorder that affects the body's ability to create red blood cells. (emirates247.com)
  • Thalassemia is an inherited blood disorder that affects the body's ability to create red blood cells, where the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. (emirates247.com)
  • People with beta thalassemia are at an increased risk of developing abnormal blood clots. (medlineplus.gov)
  • Beta thalassemia is caused due to mutations in the HBB gene, which leads to reduced or absent production of beta globin, a type of hemoglobin. (healthcarentsickcare.com)
  • There are four major globin chain types - alpha (α), beta (β), gamma (γ), and delta (δ). (osmosis.org)
  • The result is either a reduced, or completely absent beta globin chain synthesis. (osmosis.org)