Beta thalassemia. Medical search

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.

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.

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.

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)

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, ...

https://en.wikipedia.org/wiki/JRI-Poland

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 ...

https://en.wikipedia.org/wiki/Hemoglobin_variants

Extended red blood cell phenotyping is also recommended for people with beta-thalassemia. Blood group systems other than ABO ...

https://en.wikipedia.org/wiki/Blood_compatibility_testing

"Beta-thalassemia". Orphanet Journal of Rare Diseases. 5: 11. doi:10.1186/1750-1172-5-11. ISSN 1750-1172. PMC 2893117. PMID ...

https://en.wikipedia.org/wiki/Gene_testing

This mutation is almost exclusive of the inhabitants of Sardinia and is a common cause of beta thalassemia. According to a 2010 ...

https://en.wikipedia.org/wiki/Erythrocyte_sedimentation_rate

Beta thalassaemia (β-globin). *Hurler syndrome. *Dravet Syndrome. Ataluren (previously PTC124) is a pharmaceutical drug that ... Some genetic disorders, such as thalassemia and DMD, result from point-nonsense mutations. ...

https://en.wikipedia.org/wiki/Nonsense_mutation

... "beta 0 thalassemia, a nonsense mutation in man". Proc. Natl. Acad. Sci. U.S.A. 76 (6): 2886-9. doi:10.1073/pnas.76.6.2886. PMC ... The order of the genes in the beta-globin cluster is: 5' - epsilon - gamma-G - gamma-A - delta - beta - 3'.[4] ... 1993). "Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia". Hemoglobin. 16 (6): 503-9. doi: ... Also, in cases of beta-thalassemia and related conditions, gamma chain production may be maintained, possibly as a mechanism to ...

https://en.wikipedia.org/wiki/HBG1

Beta-thalassemia. Reduced synthesis of the hemoglobin-beta chain; microcytic hypochromic anemia[18]. Factor II. Venous ... "Beta-thalassemia". Orphanet Journal of Rare Diseases. 5: 11. doi:10.1186/1750-1172-5-11. ISSN 1750-1172. PMC 2893117. PMID ...

https://en.m.wikipedia.org/wiki/Genetic_testing

"Beta-thalassemia due to a T----A mutation within the ATA box". Biochemical and Biophysical Research Communications. 153 (2): ... "beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site". Proceedings of the ... SNPs in TATA boxes are associated with B-thalassemia, immunosuppression, and other neurological disorders.[42] SNPs destabilize ... Zienolddiny S, Ryberg D, Maggini V, Skaug V, Canzian F, Haugen A (April 2004). "Polymorphisms of the interleukin-1 beta gene ...

https://en.wikipedia.org/wiki/TATA_box

Beta thalassemia may also result in transfusion dependence.[60][61] Concerns from repeated blood transfusions include iron ... Mentzer WC (April 1973). "Differentiation of iron deficiency from thalassaemia trait". Lancet. 1 (7808): 882. PMID 4123424.. ... Thalassemias, causing deficient globin synthesis[17]. *Congenital dyserythropoietic anemias, causing ineffective erythropoiesis ... found in thalassemia major) or leg ulcers (seen in sickle-cell disease). In severe anemia, there may be signs of a hyperdynamic ...

https://en.m.wikipedia.org/wiki/Anaemia

However, the level of Hb F can be elevated in persons with sickle-cell disease and beta-thalassemia. ... "Hemoglobinopathies and Thalassemias". Retrieved 2007-12-26.. *^ Reed, Leslie. "Adaptation found in mouse genes." Omaha World- ... Some mutations in the globin chain are associated with the hemoglobinopathies, such as sickle-cell disease and thalassemia. ... A (mostly) separate set of diseases called thalassemias involves underproduction of normal and sometimes abnormal hemoglobins, ...

https://en.wikipedia.org/wiki/Hemoglobin_deficiency

... such as beta thalassemia and hemoglobin C. It can also be used to determine whether there is a deficiency of any normal form of ... Thalassemia major Hb F level and Hb A2 levels then increase.[citation needed] "Hemoglobin electrophoresis: MedlinePlus Medical ... The hemoglobin electrophoresis is also known to be thalassemia screening, which can also be helpful for the patient who ... hemoglobin, as in the group of diseases known as thalassemias. Different hemoglobins have different charges, and according to ...

https://en.wikipedia.org/wiki/Hemoglobin_electrophoresis

Alpha-thalassemia and beta-thalassemia Hemoglobin C Disease Iron deficiency anemia Post-splenectomy: A major function of the ... In contrast, membrane excess is only relative in patients with iron-deficiency anemia and thalassemia because of the reduced ...

https://en.wikipedia.org/wiki/Codocyte

R216W: characterized by a beta thalassemia-type disease, i.e. microcytic anemia, absence of hemoglobin B, and hereditary ... beta thalassemia; mild thrombocytopenia with features of the gray platelet syndrome. ... Molete JM, Petrykowska H, Sigg M, Miller W, Hardison R (Jan 2002). "Functional and binding studies of HS3.2 of the beta-globin ... a thalassemia-like disorder due to unbalanced hemoglobin production, and/or a porphyria-like disorder.[40][37] A recent study ...

https://en.wikipedia.org/wiki/GATA1

Beta thalassemia[33]. *Rubinstein-Taybi syndrome[34]. Constitutive vs regulated[edit]. Some promoters are called constitutive ... Kulozik, A. B. K.; Bellan-Koch, A.; Bail, S.; Kohne, E.; Kleihauer, E. (May 1991). "Thalassemia intermedia: moderate reduction ... of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element". Blood. 77 (9): 2054- ...

https://en.wikipedia.org/wiki/Promoter_

"Thalassemia intermedia: moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal ... Hobbs K, Negri J, Klinnert M, Rosenwasser LJ, Borish L (December 1998). "Interleukin-10 and transforming growth factor-beta ...

https://en.m.wikipedia.org/wiki/Promoter_

Vidaud M, Gattoni R, Stevenin J, et al., A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits ... pre-mRNA splicing: a mechanism for beta+-thalassemia, in Proc. Natl. Acad. Sci. U.S.A., vol. 86, nº 3, 1989, pp. 1041-5, DOI: ...

https://it.wikipedia.org/wiki/Porfobilinogeno_deaminasi

Ang mga ito ay kinabibilangan ng sakit na sickle-haemoglobin C (HbSC), sickle beta-plus-thalassaemia (HbS/β+) at sickle beta- ... general considerations and impact on patients with sickle-cell disease and thalassemia and on blood transfusions". FEMS ...

https://tl.wikipedia.org/wiki/Sakit_na_sickle-cell

Beta-Thalassemia. *Familial Mediterranean fever. *Glucose-6-phosphate dehydrogenase deficiency and Gilbert's Syndrome ...

https://en.wikipedia.org/wiki/Sephardi_Jews

beta-ketothiolase deficiency. *beta thalassemia. *bladder cancer. *breast cancer. *carnitine palmitoyltransferase I deficiency ...

https://tl.wikipedia.org/wiki/Kromosomang_11_

Beta-thalassemia (due to expansion of bone marrow secondary to increased hematopoiesis)[5] ...

https://simple.wikipedia.org/wiki/Skull_bossing

Beta-thalassemia major anemia. *Beta-thalassemia (gene promoter involvement). *Bethlem myopathy. Bh[edit]. *Bhaskar Jagannathan ...

https://en.wikipedia.org/wiki/List_of_diseases_

Beta-thalassemia minor) অথবা বিটা থ্যালাসেমিয়া ট্রেইট (Beta-thalassemia trait). ... hemoglobinopathy: Thalassemia (alpha, beta, delta) · Sickle-cell disease/trait · HPFH membrane: Hereditary spherocytosis( ... দুটি জিন ত্রুটিপূর্ণ হলে মাঝারি থেকে মারাত্মক উপসর্গ দেখা যায়। এ অবস্থাকে বলে বিটা থ্যালাসেমিয়া মেজর ( Beta-thalassemia major ... থ্যালাসেমিয়া (ইংরেজি: Thalassemia) একটি অটোজোমাল মিউট্যান্ট প্রচ্ছন্ন জিনঘটিত বংশগত রক্তের রোগ। এই রোগে রক্তে অক্সিজেন ...

https://bn.wikipedia.org/wiki/থ্যালাসেমিয়া

J. Eric Russell; Stephen A. Leibhaber (November 1998). "Reversal of Lethal α- and β-Thalassemias in Mice by Expression of Human ... composed of two zeta chains and two beta chains. It is quite unstable, more so than even hemoglobin Gower 1, and breaks down ... Despite this, it has been proposed as a candidate for reactivation in cases of severe α thalassemia or hemoglobinopathies ... it has been proposed as a subject for reactivation in the adult in cases of severe β thalassemia and hemoglobinopathies in ...

https://en.wikipedia.org/wiki/Embryonic_hemoglobin

... as well as in beta-thalassemia and hemochromatosis.[2] References[edit]. *^ Rooks J, Ory H, Ishak K, Strauss L, Greenspan J, ...

https://en.wikipedia.org/wiki/Hepatocellular_adenoma

... beta-thalassemia, glucose-6-phosphate dehydrogenase deficiency, phosphate depletion, iron deficiency and Wilson's disease. ... Thalassemia is a genetic disease that results in the production of an abnormal ratio of hemoglobin subunits. ... Both sickle-cell disease and thalassemia are more common in malaria areas, because these mutations convey some protection ...

https://en.m.wikipedia.org/wiki/Red_blood_cells

hemoglobinopathy: Thalassemia (alpha, beta, delta) · Sickle-cell disease/trait · HPFH membrane: Hereditary spherocytosis( ...

https://bn.wikipedia.org/wiki/রক্তশূন্যতা

α-thalassemia, which attains frequencies of 30% in parts of West Africa; β-thalassemia, with frequencies up to 10% in parts of ... Hemoglobin E is due to a single point mutation in the gene for the beta chain with a glutamate-to-lysine substitution at ... In the common Mediterranean variant, mutations decrease production of the β-chain (β-thalassemia). In α-thalassemia, which is ... The thalassemias have a high incidence in a broad band extending from the Mediterranean basin and parts of Africa, throughout ...

https://en.wikipedia.org/wiki/Human_genetic_resistance_to_malaria

Thalassemias[edit]. Main articles: Thalassemia and Alpha-thalassemia. It has long been known that a kind of anemia, termed ... Hemoglobin E is due to a single point mutation in the gene for the beta chain with a glutamate-to-lysine substitution at ... In the common Mediterranean variant, mutations decrease production of the β-chain (β-thalassemia). In α-thalassemia, which is ... β-thalassemia, with frequencies up to 10% in parts of Italy;. *HbE, which attains frequencies up to 55% in Thailand and other ...

https://en.wikipedia.org/wiki/Genetic_Resistance_to_Malaria

hemoglobinopathy: Thalassemia *alpha. *beta. *delta. *Sickle-cell disease/trait. *HPFH. *membrane: Hereditary spherocytosis * ...

https://en.wikipedia.org/wiki/Megaloblastic_anemia

It was the first SOD whose atomic-detail crystal structure was solved, in 1975.[8] It is an 8-stranded "Greek key" beta-barrel ... Overexpression of SOD1 has been linked to the neural disorders seen in Down syndrome.[38] In patients with thalassemia, SOD ... "Status of Superoxide Dismutase in Transfusion Dependent Thalassaemia". North American Journal of Medical Sciences. 7 (5): 194- ...

https://en.wikipedia.org/wiki/Orgotein

TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia). *TGFBR1/TGFBR2 (Loeys-Dietz syndrome) ... Alpha-thalassemia mental retardation syndrome. *Siderius X-linked mental retardation syndrome. *Eye disorders: Color blindness ...

https://en.wikipedia.org/wiki/Kallmann_syndrome

Presumably penicillin G could be given with a beta-lactamase inhibitor combination, such as Unasyn, for patients with a beta- ... Individuals with β-thalassemia and smokers are also listed as high-risk. These individuals, like asplenics and alcoholics, have ... Antibiotics that contain beta-lactamase inhibitors (i.e., oral Augmentin or parenteral Unasyn) cover C. canimorsus as well as ... After diagnosis, provided the strain is not beta-lactamase producing, medication should be switched to penicilin G. ...

https://en.wikipedia.org/wiki/Capnocytophaga_canimorsus

"Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta". Am. J. Hum. Genet. 85 ... Alpha-thalassemia mental retardation syndrome. *Siderius X-linked mental retardation syndrome. *Eye disorders: Color blindness ...

https://en.wikipedia.org/wiki/Amelogenesis_imperfecta

Livingstone FB (1985). Frequencies of hemoglobin variants: thalassemia, the glucose-6-phosphate dehydrogenase deficiency, G6PD ... as well as interfering with beta oxidation, an important part of valproate metabolism), and other NSAIDs. Corticosteroids may ...

https://en.wikipedia.org/wiki/Acetylsalicylic_acid

Alpha-thalassemia mental retardation syndrome. *Siderius X-linked mental retardation syndrome. *Eye disorders: Color blindness ...

https://en.wikipedia.org/wiki/Diabetes_insipidus

... ß-thalassemia in a patient. "Intergenic" refers to long non-coding RNAs that are transcribed from non-coding DNA sequences ... "Expression of a noncoding RNA is elevated in Alzheimer's disease and drives rapid feed-forward regulation of beta-secretase". ...

https://en.wikipedia.org/wiki/Long_non-coding_RNA

Second, the breast-milk of some women contains a metabolite of progesterone called 3-alpha-20-beta pregnanediol. This substance ... Alpha-thalassemia, e.g. HbH disease. Extrinsic causes of hemolysis[edit]. *Systemic conditions *Sepsis ... "Prolonged neonatal unconjugated hyperbilirubinemia associated with breast feeding and a steroid, pregnane-3(alpha), 20(beta)- ...

https://en.wikipedia.org/wiki/Neonatal_jaundice

Beta normal form -- Beta prime distribution -- Beta rectangular distribution -- Beta skeleton -- Beta thalassemia -- Beta ... Beta distribution -- Beta-dual space -- Beta function -- Beta integral -- Beta integral (disambiguation) -- Beta negative ...

https://en.wikipedia.org/wiki/Wikipedia:WikiProject_Mathematics/List_of_mathematics_articles_

Alpha-thalassemia mental retardation syndrome. *Siderius X-linked mental retardation syndrome. *Eye disorders: Color blindness ...

https://en.wikipedia.org/wiki/Ocular_albinism

... thalassemia. Iron is actually excreted in urine[22] and is also concentrated in bile[23] which is excreted in feces.[24] ... Beta amyloid Cadmium[57][58] Metallothionein. Thiolate proteins Molybdenum[59]. Nitrate reductase. Sulfite oxidase. Xanthine ...

https://en.wikipedia.org/wiki/Metalloprotein

The pulmonary function of patients with beta-thalassemia intermedia seemed to be preserved. Arterial blood gas values were ... We studied lung function changes in 32 patients with beta-thalassemia. DESIGN AND METHODS: Respiratory function tests, CO ... BACKGROUND AND OBJECTIVE: The survival of patients with beta-thalassemia major and intermedia has improved considerably. This ... and 13 with beta-thalassemia intermedia (6 M, 7 F). All investigations were performed 24 hours before the patients received a ...

http://www.haematologica.org/content/84/9/804

"Pregnancy in patients treated for beta thalassemia major in two centers (Ali Asghar Childrens Hospital and Thalassemia Clinic ... Beta-Thalassemia Major and Female Fertility: The Role of Iron and Iron-Induced Oxidative Stress. Paraskevi Roussou, Nikolaos J ... In beta-thalassemia major (BTM), iron overload is the joint outcome of multiple blood transfusions and an inappropriately ... F. Waseem, K. A. Khemomal, and R. Sajid, "Antioxidant status in beta thalassemia major: a single-center study," Indian Journal ...

https://www.hindawi.com/journals/anemia/2013/617204/

More information on beta thalassaemia. Beta Thalassaemia is generally caused by point mutations or chromosome 11, following a ... Beta thalassaemia includes:. *Thalassaemia minor: this usually occurs in patients who are heterozygous for one beta ... Thalassaemia intermedia: Patients with symptoms that range from those observed in thalassaemia minor and those in thalassaemia ... thalassaemia mutation (beta thalassamia carriers or bête thalassaemia trait). Individuals will suffer from mild microcytic ...

http://www.nhsggc.org.uk/your-health/public-health/public-health-screening-unit/haemoglobinopathies-screening/more-information-on-beta-thalassaemia-information/

... general Beta thalassemia Care and treatment Research Blood transfusion Analysis Calcium (Nutrient) Calcium, Dietary Chelation ... therapy Usage Patients Health aspects Phosphorus (Nutrient) Phosphorus in the body Thalassemia ... ASSESSMENT OF SERUM CALCIUM AND PHOSPHORUS LEVELS AMONG TRANSFUSION-DEPENDENT BETA THALASSEMIA MAJOR PATIENTS ON CHELATION ... 8. Muncie HL Jr, Campbell J. Alpha and beta thalassemia. Am Fam Physician 2009; 80:339-44.. 9. Thalassemia International ...

https://www.thefreelibrary.com/ASSESSMENT+OF+SERUM+CALCIUM+AND+PHOSPHORUS+LEVELS+AMONG...-a0500037183

... naturally occurring mutation that protects some patients with beta-thalassemia o ... "Patients with sickle-cell disease and beta-thalassemia are not sick when they are first born, but symptoms develop shortly ... The investigators plan to harvest hematopoietic stem cells from patients with SCD and beta-thalassemia and use CRISPR/Cas9 ... which causes some patients with SCD or beta-thalassemia to continue to produce the fully functional fetal rather than adult ...

https://www.mdedge.com/hematology-oncology/article/141178/anemia/gene-editing-aims-recreate-beneficial-mutation-scd-beta

... and 32 transfusion dependent children with beta thalassaemia major who had no evidence of heart failure (group 2). Twenty seven ... suggest that left ventricular diastolic dysfunction occurs early in myocardial impairment in patients with beta thalassaemia ...

http://adc.bmj.com/content/64/7/1046

Chromosome 11 Beta Thalassemia Intermedia B+/B+. In Beta thalassemia intermedia, B+/B+, both beta chain loci show a partial ... Learn more about Beta Thalassemia (online CE course) » How to Subscribe MLS & MLT Comprehensive CE Package. Includes 106 CE ... The page below is a sample from the LabCE course Beta Thalassemia. Access the complete course and earn ASCLS P.A.C.E.-approved ...

https://www.labce.com/spg226466_chromosome_11_beta_thalassemia_intermedia_bb.aspx

THALAMOSS - THALAssaemia MOdular Stratification System for personalized therapy of beta-thalassemia http://www.unife.it/it/ ... scienze-della-vita-e-biotecnologie/thalamoss-thalassaemia-modular-stratification-system-for-personalized-therapy-of-beta- ... THALAMOSS is aimed at development of universal sets of markers and techniques for stratification of β-thalassaemia patients ... The impact of THALAMOSS is the provision of novel biomarkers for distinct treatment subgroups in β-thalassaemia (500-1000 ...

http://www.unife.it/it/ricerca/progetti/archivio-2007-2013/scienze-della-vita-e-biotecnologie/thalamoss-thalassaemia-modular-stratification-system-for-personalized-therapy-of-beta-thalassemia

Combination quercetin and desferrioxamine could decrease iron overload in patients with transfusion-dependent beta-thalassemia ... Combination quercetin and desferrioxamine could decrease iron overload in patients with transfusion-dependent beta-thalassemia ... The researchers conducted a randomized, double-blind trial of 84 patients with thalassemia major. Of those enrolled, 71 ... The findings highlight the potential of quercetin to lower ferritin levels in patients with thalassemia major. ...

https://www.mdedge.com/hematology-oncology/article/207259/bleeding-disorders/quercetin-may-reduce-iron-overload-beta

... of Serum Ferritin Levels with Liver Function Tests and Anthropometric Measurements in Transfusion Dependent Beta-Thalassemia ... Aim: To determine liver dysfunction and growth in transfusion-dependent beta-thalassemia children of age 2-16 years with iron ... Methods: Forty-one children aged 2-16 years with transfusion-dependent beta-thalassemia who were on chelation therapy with oral ... Thus, 41 children aged 2-16 years with transfusion-dependent beta-thalassemia who were registered in our center and who were on ...

https://www.pediatriconcall.com/pediatric-journal/view/fulltext-articles/1236/j/0/0/656/0

Counselling for prenatal diagnosis of sickle cell disease and beta thalassaemia major: a four year experience. ... Counselling for prenatal diagnosis of sickle cell disease and beta thalassaemia major: a four year experience. ...

http://jmg.bmj.com/content/25/11/769.alerts

Ask a Doctor about diagnosis, treatment and medication for Thalassemia, Ask a Pediatrician ... Thalassemia, Mild anemia, Beta-thalassemia trait, Anemia, Cooley anemia, Bone deformity, Thalassemia major, Beta thalassemia, ... Silent carrier β thalassemia: these patients have no symptoms, except for possible low RBC indices. β thalassemia trait: ... Silent carrier β thalassemia: these patients have no symptoms, except for possible low RBC indices. β thalassemia trait: ...

http://www.healthcaremagic.com/questions/Medication-for-Beta-thalassemia/81386

Beta thalassemia major*Beta thalassemia intermedia*Beta thalassemia minor. *E. What diagnostic tests should be performed?*1. ... Beta thalassemia. I. What every physician needs to know.. Thalassemias are disorders of hemoglobin synthesis. Beta (β-) ... Beta Thalassemia minor or beta thalassemia trait carries no symptoms except for mild fatigue reported in studies. Diagnosis is ... C. History Part 3: Competing diagnoses that can mimic beta thalassemia.. Diagnosis of Homozygous beta thalassemia is not ...

https://www.psychiatryadvisor.com/home/decision-support-in-medicine/hospital-medicine/beta-thalassemia/

Home / ABA Keyword Categories / B / Beta-thalassemia: Newborn. Beta-thalassemia: Newborn. Definition. Thalassemia is a disorder ... Thalassemia major results hemolysis. Newborns with Beta-thalassemia major usually are normal at birth because of the initial ... chain results in Alpha-thalassemia and a deficiency or absence of one or more of the beta chains results in Beta-thalassemia. ... Beta-thalassemia occurs in 1 in 25,000 births in north america.. The beta chain requires a gene from each parent to produce the ...

http://www.openanesthesia.org/beta-thalassemia_newborn/

... is a blood disorder in which the body has a problem producing beta globin, a component of hemoglobin, the ... About Beta Thalassemia. Beta thalassemia happens when the gene that controls the production of beta globin is defective. Beta ... Types of Beta Thalassemia. There are three types of beta thalassemia, depending upon whether one or two beta globin genes are ... Beta thalassemia minor, or beta thalassemia trait, happens when one of the beta globin genes is mutated. People with this ...

http://kidshealth.org/Nemours/en/parents/beta-thalassemia.html

Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Explore symptoms, inheritance, genetics of this ... The absence of beta-globin is referred to as beta-zero (β0) thalassemia. Other HBB gene mutations 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. ...

https://medlineplus.gov/genetics/condition/beta-thalassemia/

Blood transfusions are part of the treatment routine for some people with a blood disorder called beta thalassemia. Learn when ... Blood Transfusions for Beta Thalassemia. Blood transfusions could be a regular thing if you or your child has a blood disorder ... Beta thalassemia lowers your hemoglobin -- a protein that helps red blood cells carry oxygen to your organs and tissues -- and ... The type of beta thalassemia you or your child has will help your doctor decide if you need blood transfusions. ...

https://www.webmd.com/a-to-z-guides/beta-thal-19/beta-thalassemia-blood-transfusions

Beta thalassemia is a blood disorder in which the body has a problem producing beta globin, a component of hemoglobin, the ... The three types of beta thalassemia (BAY-tuh thahl-uh-SEE-mee-uh) are:. *Beta thalassemia minor (also called beta thalassemia ... has beta thalassemia intermedia or beta thalassemia major (Cooleys anemia).. Sometimes a beta thalassemia gene change can be ... Beta talasemia. What Is Beta Thalassemia?. Beta thalassemia is an inherited blood disorder in which the body doesnt make ...

https://kidshealth.org/ChildrensHealthNetwork/en/parents/beta-thalassemia.html

Learn about symptoms, treatment, who is a carrier, and diagnosis for beta thalassemia. ... Beta thalassemia is a group of genetic blood disorders that share in common the defective production of hemoglobin, similar to ... Thalassemia patients make defective hemoglobin.. *There are two forms of beta thalassemia: thalassemia minor and thalassemia ... Beta Thalassemia - Share Your Experience Do you or a relative have beta thalassemia? Please tell us about your experience. ...

https://www.medicinenet.com/beta_thalassemia/article.htm

There are two main types of thalassemia: alpha and beta. Thalassemia can cause mild or severe anemia. ... Thalassemia is an inherited blood disorder that is passed down through the parents genes. ... Beta Thalassemia. Facebook Twitter Linkedin Pinterest Print. What is beta thalassemia?. Thalassemia (thal-uh-SEE-mee-uh) is a ... What are the complications of beta thalassemia?. Complications of beta thalassemia vary depending on the type:. * Thalassemia ...

https://www.hopkinsmedicine.org/health/conditions-and-diseases/beta-thalassemia

Cell-Free Hemoglobin Synthesis in Beta-Thalassemia. J. M. Gilbert, A. G. Thornton, A. W. Nienhuis, and W. F. Anderson ... Induction of β-Globin Synthesis in the β-Thalassaemia of Ferrara. FRANCESCO CONCONI, PETER T. ROWLEY, LAURA DEL SENNO, SANDRO ... Initiation of Globin Synthesis in β-Thalassemia. Ronald G. Crystal, Norton A. Elson, Arthur Nienhuis, Abigail C. Thornton, W. ... Decreased α Globin Messenger RNA Activity associated with Polyribosomes in α Thalassaemia ...

https://www.pnas.org/content/67/4/1854/tab-article-info

Intracranial extramedullary hematopoiesis in beta-thalassemia. Korean J Radiol. 2012;13:240.CrossRefPubMedPubMedCentralGoogle ... Origa R. Beta-thalassemia. GeneReviews(®). Seattle: University of Washington; 1993.Google Scholar ... The authors report two cases of intracranial extramedullary hematopoiesis in beta thalassemia. In one of these patients, ... Guidelines for the management of non transfusion dependent thalassaemia (NTDT). Nicosia, Cyprus: Thalassaemia International ...

https://link.springer.com/article/10.1007/s12098-018-2618-z

Beta thalassemia is an inherited blood disorder that affects how hemoglobin is made. Learn about causes, symptoms, ... What are the complications of beta thalassemia?. Complications of beta thalassemia vary depending on the type:. * Thalassemia ... How is beta thalassemia diagnosed?. Beta thalassemia is most often found in people who are from Greek, Italian, African, or ... What causes beta thalassemia?. Beta thalassemia is caused by damaged or missing genes. Two specific genes are involved. There ...

https://www.hopkinsmedicine.org/healthlibrary/conditions/adult/hematology_and_blood_disorders/beta_thalassemia_85,P00081

I have been diagnosed as a Beta Thalassemia Minor since few years ago. I have always been slightly anaemic (around 10.5-11.5 ...

https://www.medhelp.org/posts/Sickle-Cell-Anemia/Thalassemia-Beta-Minor/show/2089067

A major diagnostic consideration is to distinguish mild microcytic anemia due to beta-thalassemia carrier state from microcytic ... Drugs & Diseases , Hematology , Beta Thalassemia Q&A How is beta thalassemia differentiated from other causes of anemia?. ... encoded search term (How is beta thalassemia differentiated from other causes of anemia?) and How is beta thalassemia ... Basu S, Kumar A. Hair-on-end appearance in radiograph of skull and facial bones in a case of beta thalassaemia. Br J Haematol. ...

https://www.medscape.com/answers/206490-184797/how-is-beta-thalassemia-differentiated-from-other-causes-of-anemia

Patients with coinheritance of alpha thalassemia have a milder clinical course because they have a less severe alpha-beta chain ... Drugs & Diseases , Hematology , Beta Thalassemia Q&A How does alpha thalassemia affect the severity of beta thalassemia?. ... Basu S, Kumar A. Hair-on-end appearance in radiograph of skull and facial bones in a case of beta thalassaemia. Br J Haematol. ... Peripheral smear in beta-zero thalassemia minor showing microcytes (M), target cells (T), and poikilocytes. ...

https://www.medscape.com/answers/206490-184787/how-does-alpha-thalassemia-affect-the-severity-of-beta-thalassemia

The month of May saw major announcements in breakthrough therapies by companies working on the Beta-Thalassemia curatives - ... LentiGlobin BB305 is a potential curative for Beta-Thalassemia. The LentiGlobin BB305 introduces a fully functional human beta- ... Beta-Thalassemia is a life-threatening, blood disorder where the body fails to produce sufficient haemoglobin to thrive. ... The LentiGlobin BB305 is a one-time gene transfer therapy, which promises a permanent cure for Beta-Thalassemia. According to ...

https://www.medindia.net/news/healthinfocus/breakthrough-treatments-for-beta-thalassemia-major-150562-1.htm

Beta thalassaemia A mutation in the beta haemoglobin chains causes beta thalassaemia. Beta thalassemias occur due to ... Beta thalassemia trait is also called as beta thalassemia minor. These are … Normally, beta thalassemia trait does not cause ... Beta thalassemia trait is also called as beta thalassemia minor. There are two types of thalassemia trait: Alpha thalassemia ... Thalassaemia minor can refer to people with either alpha- or beta-thalassaemia. Beta Thalassemia minor or Thalassemia trait: ...

http://ecoloinfo.com/09vnmqy/vyno24.php?tag=b329a5-beta-thalassemia-trait-pregnancy

Merchant, R., Choudhari, A.J., Verma, M. et al. Intracranial Hematopoiesis in Beta Thalassemia: A Case Series. Indian J Pediatr ... The authors report two cases of intracranial extramedullary hematopoiesis in beta thalassemia. In one of these patients, ... Intracranial extramedullary hematopoiesis in beta-thalassemia. Korean J Radiol. 2012;13:240. ... Guidelines for the management of non transfusion dependent thalassaemia (NTDT). Nicosia, Cyprus: Thalassaemia International ...

https://link.springer.com/article/10.1007/s12098-018-2618-z?error=cookies_not_supported&error=cookies_not_supported&code=fc788f69-3d43-498e-b93e-ee738395f9cf

Beta thalassemia intermedia is less severe than beta thalassemia major and may require episodic blood transfusions. Transfusion ... Alpha thalassemia is caused by reduced or absent synthesis of alpha globin chains, and beta thalassemia is caused by reduced or ... Persons with the thalassemia trait have a normal life expectancy. Persons with beta thalassemia major often die from cardiac ... Alpha thalassemia major with hemoglobin Barts usually results in fatal hydrops fetalis. Beta thalassemia major causes ...

https://www.aafp.org/afp/2009/0815/p339.html

Beta thalassemia minor (or beta thalassemia trait) is when one beta globin gene is mutated. It usually causes mild anemia and ... Beta thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder in which the body has a problem producing beta globin, a ... Beta thalassemia major (Cooleys anemia) is when both of the beta globin genes are mutated. This is the most severe form of ... Beta thalassemia intermedia is when both beta globin genes are mutated, but the mutations are less severe. It usually causes ...

https://www.childrensmn.org/educationmaterials/parents/article/14491/a-to-z-beta-thalassemia/

A small study finds promise for using gene therapy to treat patients with beta-thalassemia, a blood condition that can cause ... Beta-Thalassemia Treatment With Gene Therapy Reduced Transfusions : Shots - Health News A small study finds promise for using ... Researchers used a gene-carrying virus to fix blood stem cells that were then used to treat patients with beta-thalassemia. ... Results of a study published Wednesday show that 15 of 22 patients with beta-thalassemia who got gene therapy were able to stop ...

https://www.npr.org/sections/health-shots/2018/04/18/602914728/gene-therapy-for-inherited-blood-disorder-reduced-transfusions

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. Related Conditions and Diseases. * ... The therapeutic approach to thalassemia varies between thalassemia minor and thalassemia major. ...

https://emedicine.medscape.com/article/206490-treatment

Beta thalassemia is caused by genetic defects that control the production of hemoglobin, and treatment includes regular blood ... What is beta thalassemia? Beta thalassemia is an inherited blood disorder. This means it is passed down through the parents ... What causes beta thalassemia? Beta thalassemia is caused by a defect of the gene that controls hemoglobin production. There are ... Beta thalassemia major (Cooleys anemia). This is the most severe type of beta thalassemia. It is often found during the first ...

https://childrensnational.org/visit/conditions-and-treatments/blood-marrow/beta-thalassemia-cooleys-anemia

We will develop a simple PCR method to diagnosis alpha-thalassemias. Phase I of the project willconduct feasibility study for ... They can be differentiated by measuring the band intensity of the target chains(alpha1, alpha2) and reference chain (beta-actin ... The kit will be usedfor screening potential carriers with alpha-thalassemia in the United States, Southeast Asia andSouthern ... This should identify patients at risk of having offspring with symptomatic alpha-thalass-emia disorders. The Investigators note ...

https://www.sbir.gov/sbirsearch/detail/88099

Home News Fetal Gene Editing with Synthetic Nucleotides Cures Beta-Thalassemia in Mice ... Fetal Gene Editing with Synthetic Nucleotides Cures Beta-Thalassemia in Mice. July 10, 2018. 0 ... In 2016 the team reported on use of the PNA technology in adult mice to correct the β-thalassemia gene defect and effectively ... When the treatment was then tested in the mouse model of β-thalassemia, the team found that fetuses that had received the NP- ...

https://www.genengnews.com/topics/omics/fetal-gene-editing-with-synthetic-nucleotides-cures-beta-thalassemia-in-mice/

Beta Thalassemia is a companion course to Alpha Thalassemia. This course defines and discusses the disorder beta thalassemia ... Delta-Beta Thalassemia. *Skeletal deformations are most commonly present in which one of the following beta thalassemia forms? ... Identify synonyms for the various forms of beta thalassemia.. *Correlate beta thalassemias with their genetic nomenclatures/ ... beta thalassemia. Topics include: Clinical manifestations, the genetics of beta thalassemia, and laboratory findings. ...

https://www.medialab.com/beta-thalassemia.aspx

A phase 3 trial of Celgenes luspatercept in adults with beta thalassemia has hit its primary goal. The late-phase success tees ... A phase 3 trial of Celgenes luspatercept in adults with beta thalassemia has hit its primary goal. The late-phase success tees ... the ability of erythroid maturation agent luspatercept to reduce the need for adults with anemia related to beta thalassemia to ... Luspatercept was tipped to drive improved outcomes by targeting TGF-beta proteins involved in the maturation of red blood cells ...

https://www.fiercebiotech.com/biotech/celgene-s-luspatercept-aces-phase-3-beta-thalassemia-trial-0

In homozygous beta0 thalassemia, there is no synthesis of beta chains, while in homozygous beta+ thalassemia, beta chains are ... Beta thalassemia major (Cooleys Anemia). Also known as homozygous beta thalassemia, this is the most severe form of ... In some cases of beta thalassemia, the adjacent delta chain gene is also affected and this gives rise to delta-beta thalassemia ... beta-thalassemia is asymptomatic or onl mildly symptomatic. It is beta thalassemia which is most commonly seen in places like ...

https://hubpages.com/health/General-Considerations-Prognosis-And-Management-Of-Hemolytic-Anemias

For important test information about 23andMes Beta Thalassemia and Related Hemoglobinopathies Carrier Status report, visit ... Learn more about the genetics of beta thalassemia and related hemoglobinopathies. ... Beta Thalassemia and Related Hemoglobinopathies What is beta thalassemia? Beta thalassemia is a genetic disorder characterized ... Causes of beta thalassemia Beta thalassemia and related hemoglobinopathies are caused by variants (differences) in the HBB gene ...

https://www.23andme.com/en-eu/topics/carrier/beta-thalassemia/

Tags: Anemia, Autosomal, Beta-Thalassemia, Blood, Blood Disorder, Cell, Children, Embryonic Stem Cell, Embryonic Stem Cells, ... Researchers report gene therapy strategy that improves Beta Thalassemia in mice model. *Download PDF Copy ... Findings could hold promise for a new treatment strategy for autosomal dominant diseases like certain forms of Beta Thalassemia ... Beta Thalassemia. The gene correction involves using unfertilized eggs from afflicted mice to produce a batch of embryonic stem ...

https://www.news-medical.net/news/20110111/Researchers-report-gene-therapy-strategy-that-improves-Beta-Thalassemia-in-mice-model.aspx

... beta-thalassemia, thalassemia, autosomal recessive, genetic disorder ...

http://ygyh.org/thal/whatisit.htm

Serum transferrin receptor levels in beta-thalassemia trait. Download Prime PubMed App to iPhone, iPad, or Android ... In this study we measured sTfR levels in the cases of beta-thalassemia trait (betaTT) and IDA to see whether it would be a ... In this study we measured sTfR levels in the cases of beta-thalassemia trait (betaTT) and IDA to see whether it would be a ... "Serum Transferrin Receptor Levels in Beta-thalassemia Trait." Journal of Tropical Pediatrics, vol. 50, no. 6, 2004, pp. 369-71. ...

https://www.unboundmedicine.com/medline/citation/15537726/Serum_transferrin_receptor_levels_in_beta_thalassemia_trait_

Individuals with beta thalassemia major, ages 18 to 35, who are receiving regular transfusion therapy may be able to ... Individuals with beta thalassemia major, ages 18 to 35, who are receiving regular transfusion therapy may be able to ... These stem cells will then have a healthy beta globin gene inserted. You will then be hospitalized and chemotherapy will be ...

https://www.chop.edu/pages/beta-thalassemia-gene-therapy

In Beta thalassemia intermedia, B +/ B + , both beta chain loci show a partial deletion or inactivation of the gene. (labce.com)
Patients are categorized according to their severity of anemia and symptoms are grouped into thalassemia major (a severe homozygous or compound heterozygous condition, also called Cooley's anemia), intermedia and minor (a mild heterozygous condition also known as trait or minima). (psychiatryadvisor.com)
Later onset anemia suggests intermedia subtype of β thalassemia. (psychiatryadvisor.com)
Beta Thalassemia Intermedia encompasses disorders with wide spectrum of clinical presentation. (psychiatryadvisor.com)
Spectrum of severity can range from those with haemoglobin level of 6 grams/deciliter (g/dL) with severe disability to asymptomatic cases with haemoglobin of 10-12 g/dL in mild phenotype of beta thalassemia intermedia. (psychiatryadvisor.com)
Phlebotomy cannot be used to remove excess iron in transfusion-dependent patients (eg, beta thalassemia major, severe beta thalassemia intermedia, sickle cell anemia, myelodysplasia, aplastic anemia) with iron overload or in the rare patient with hemochromatosis and an unstable hemodynamic status (eg, severe cardiac involvement) [ 1 ]. (uptodate.com)

Several hundred mutations of the β-globin gene are known that result in either diminished (β + thalassemia) or absent β globin (β o thalassemia). (psychiatryadvisor.com)
Assays for 10 frequent mutations in the beta-globin gene causing beta-thalassemia and sickle cell anemia are presented that can be applied, in turn, to population screening or family study and prenatal diagnosis in single cases. (elsevier.com)
Mutations within exon 3 of the beta-globin gene are relatively uncommon, and many of these mutations produce a dominant thalassemia- like phenotype. (ashpublications.org)
Using computer imaging of the hemoglobin molecule, we examined several reported point mutations within exon 3 of the beta-globin gene. (ashpublications.org)

MADRID - With some genetic sleight-of-hand, investigators hope to mimic a rare, naturally occurring mutation that protects some patients with beta-thalassemia or sickle-cell disease (SCD) from becoming symptomatic. (mdedge.com)
1 Depending on mutation and degree of fetal hemoglobin production, transfusions in beta-thalassemia major are necessary beginning in the second month to the second year of life, but rarely later. (pediatriconcall.com)
The beta Durham-NC mutation further characterizes a novel group of thalassemias/hemoglobinopathies that are clinically difficult to identify and require accessory laboratory testing. (ashpublications.org)

Although human studies have yet to begin, investigators in a biotech company report that they can use CRISPR/Cas9 gene editing to recreate the rare condition known as hereditary persistence of fetal hemoglobin, or HPFH, which causes some patients with SCD or beta-thalassemia to continue to produce the fully functional fetal rather than adult form of hemoglobin into adulthood. (mdedge.com)
inadequate beta-globin gene production leading to a decreased level of normal hemoglobin (HbA) and unbalanced alpha and beta-globin chain production. (pediatriconcall.com)
Gene therapy could represent an alternative to hematopoietic stem cell transplantation (HCT) - the only curative therapy for beta-thalassemia - and may offer several advantages over HCT, including tailored conditioning with no need for immunosuppression after gene therapy and no risk of graft-versus-host disease or rejection. (ashclinicalnews.org)
Sarah Marktel, MD, of the Hematology and BMT Unit IRCCS San Raffaele Scientific Institute in Milan, Italy, explained during her presentation that the investigational gene therapy protocol used in this trial was based on the high-titer vector GLOBE, a third-generation self-inactivating lentiviral vector encoding for the human beta globin gene. (ashclinicalnews.org)
In the TIGET-BTHAL trial, patients with beta-thalassemia of any genotype undergo stem cell harvesting, and stem cells are then transferred to the pharmaceutical [sponsor] for insertion of the human beta globin gene," she said. (ashclinicalnews.org)

Beta Thalassemia minor or beta thalassemia trait carries no symptoms except for mild fatigue reported in studies. (psychiatryadvisor.com)
If unusually high plasma iron or serum ferritin is encountered in beta thalassemia trait one should rule out coexisting hemochromatosis or iron supplementation. (psychiatryadvisor.com)
People who have one or both parents who carry the genetic trait for thalassemia are likely to inherit homozygous beta thalassemia major. (tx.us)

Bony deformities in severe beta thalassemia typical present in childhood with bossing of the skull, oversized maxillary region leading to dental problems from malocclusion, and mongoloid facial appearance. (psychiatryadvisor.com)

Thalassemias, autosomal recessive disorders, are among the most prevalent genetic1,2 and major hemoglobin disorders globally3. (thefreelibrary.com)
Common endocrine disorders reported in b-thalassemia major patients are short stature, hypogonadism, hypoparathyroidism, hypothyroidism and diabetes mellitus13. (thefreelibrary.com)
Many studies have been done on endocrine disorders including hypoparathyroidism in thalassemia patients and frequency reported varies from centre to centre but largest study so far done included 1861 patients from 25 centres and showed that 3.6% b -thalassemia major patients had hypoparathyroidism14. (thefreelibrary.com)
He pointed out, however, that there are many thousands of patients with inherited hemoglobin disorders worldwide and beta-thalassemia, and asked "how do you proceed to implement this very expensive treatment? (mdedge.com)
Thalassemias are disorders of hemoglobin synthesis. (psychiatryadvisor.com)
Factors known to be associated with low bone mass such as gender, endocrine disorders and lifestyle activities, together with factors specific to the thalassaemia and its management, were included in a series of univariate analyses to ascertain any significant associations. (bris.ac.uk)

Methodology: This study included 100 b-thalassemia major patients who were diagnosed by Hb electrophoresis and were receiving regular blood transfusions for anemia and chelation therapy for prevention of iron overload related complications. (thefreelibrary.com)
Today, there are some 550 adults with beta thalassemia in Cyprus requiring regular blood transfusions, while almost 35-40% of annual blood transfusion needs go towards these patients. (philenews.com)
Standard treatment for beta-thalassemia includes regular blood transfusions. (philenews.com)
This is because the complete lack of beta protein in the hemoglobin causes a life-threatening anemia that requires regular blood transfusions and extensive ongoing medical care. (tx.us)

In: Bone Marrow Transplant 19 (suppl 2), Proceedings of the third international conference on bone marrow transplantation in thalassaemia, 1997. (uptodate.com)

Thalassemia is a genetic disorder. (psychiatryadvisor.com)

Thalassemias are hemolytic anemias and can be confused with other hemolytic anemia. (psychiatryadvisor.com)
Due to their extreme anemia, the previous model of transfusion dependent thalassemia is inadequate to investigate whether Minihepcidins can improve red blood cell quality, lifespan and, ineffective erythropoiesis. (ox.ac.uk)
To overcome this limitation, we generated a new murine model of transfusion dependent thalassemia with severe anemia and splenomegaly, but sufficient red cells and hemoglobin production to test the effect of Minihepcidins. (ox.ac.uk)
Homozygous beta thalassemia major, also known as Cooley's Anemia, is an inherited blood disorder that affects a person's ability to produce beta protein, causing anemia. (tx.us)
Cooley's anemia is the most severe form of beta thalassemia disease. (tx.us)
How do you get homozygous beta thalassemia major (Cooley's Anemia)? (tx.us)
In Cooley's Anemia disease, the amount of beta globin made by the body is dramatically decreased. (tx.us)
We're thrilled by the prospect of altering the treatment landscapes of MDS and beta-thalassemia with the first novel anemia agent in more than two decades," said Robert K. Zeldin, M.D., Chief Medical Officer of Acceleron. (pharmiweb.com)
Such treatment is also available for formerly transfusion-dependent individuals (eg, thalassemia, sickle cell disease, myelodysplasia, aplastic anemia) who have been cured of their underlying disease following successful hematopoietic cell transplantation (HCT). (uptodate.com)

Anaemic adults with beta thalassemia who require regular red blood cell transfusions have a reason to celebrate now that the FDA has approved Reblozyl for their treatment. (philenews.com)

In Southern Asia, the prevalence of b thalassemia has been reported to be from as low as 2% to as high as 28% in various studies5,6. (thefreelibrary.com)
The present study shows a high prevalence of low bone mass among thalassaemia major patients and analyses the predisposing causes. (bris.ac.uk)
Wonke, B. / High prevalence of low bone mass in thalassaemia major . (bris.ac.uk)

In beta-thalassemia major (BTM), iron overload is the joint outcome of multiple blood transfusions and an inappropriately increased iron absorption associated with ineffective erythropoiesis [ 1 ]. (hindawi.com)
b-thalassemia major patients present within the first year of their life and require regular lifelong blood transfusions for correction of anemia8,9. (thefreelibrary.com)
According to results from a phase I/II trial presented at the 2017 ASH Annual Meeting, patients with transfusion-dependent beta-thalassemia had a significantly reduced need for blood transfusions after receiving a single infusion of cells carrying corrected genes. (ashclinicalnews.org)

Acceleron Pharma Inc. (Nasdaq:XLRN) today announced that results from the MEDALIST and BELIEVE Phase 3 trials of luspatercept in patients with low-to-intermediate risk myelodysplastic syndromes (MDS) and transfusion-dependent beta-thalassemia, respectively, will be presented at the 60th American Society of Hematology (ASH) Annual Meeting & Exposition in San Diego, California, on December 1-4, 2018. (pharmiweb.com)
Schwartz E, Benz EJ Jr. Thalassemia syndromes. (uptodate.com)

Combination quercetin and desferrioxamine could decrease iron overload in patients with transfusion-dependent beta-thalassemia major, according to a randomized clinical study. (mdedge.com)

Conclusion: Low serum calcium is very prevalent in transfusion-dependent beta thalassemia major patients in our set up possibly due to poor chelation as was confirmed by our study where 49% of patients had hypocalcemia. (thefreelibrary.com)

Diagnosis of Homozygous beta thalassemia is not difficult. (psychiatryadvisor.com)
Homozygous beta thalassemia major is an inherited disease. (tx.us)

b-thalassemia results from defective synthesis of beta globin units of hemoglobin, resulting in reduced or absent synthesis of beta globin leading to a spectrum of phenotypic manifestations4. (thefreelibrary.com)
Hemoglobin synthesis and the thalassemias. (uptodate.com)

Objectives: to determine the levels of calcium and phosphorus in transfusion-dependant b-thalassemia major patients who were on chelation therapy being followed at Fatimid Foundation, Peshawar. (thefreelibrary.com)
With the advent of chelation therapy, the survival of thalassemia major patients have increased and they are entering even into third and fourth decades of life11. (thefreelibrary.com)
Severely low and low bone mass are common findings in patients with beta-thalassaemia major despite optimal transfusion and iron chelation. (bris.ac.uk)
The use of chelating agents for the treatment of iron overload states in children and adults will be discussed here, with an emphasis on iron chelation therapy in thalassemia [ 2,3 ]. (uptodate.com)

Cooley's original description of beta-thalassaemia major included marked bone deformities as a characteristic feature. (bris.ac.uk)

Patients with sickle-cell disease and beta-thalassemia are not sick when they are first born, but symptoms develop shortly after birth as the fetal hemoglobin levels decline, and as adult hemoglobin rises," Dr. Lundberg said. (mdedge.com)
Fetal hemoglobin has been shown to reduce the risk of sickle events in SCD, and reduce symptoms and morbidity of beta-thalassemia. (mdedge.com)

Osteoporosis has not previously been reported as a cause of severe morbidity in thalassaemia major. (bris.ac.uk)
Mortality and morbidity in thalassaemia with conventional treatment. (uptodate.com)

Congenital sideroblastic anemias and juvenile chronic myelogenous leukemia should be distinguished from beta thalassemia in early childhood. (psychiatryadvisor.com)

Bone density scans were performed in 82 patients with transfusion-dependent beta thalassaemia. (bris.ac.uk)

Beta-thalassemia is a rare inherited blood disorder that decreases the production of hemoglobin, which can lead to a lack of oxygen in different parts of the body, anaemia and abnormal blood clotting. (philenews.com)

1 The liver is the earliest site of iron deposition in transfusion-dependent thalassemia children and iron-induced liver injury is the commonest cause of morbidity. (pediatriconcall.com)

See 'Management of patients with hereditary hemochromatosis', section on 'Phlebotomy' and 'Thalassemia: Management after hematopoietic cell transplantation', section on 'Iron stores' . (uptodate.com)

Beta (β-) thalassemia results from an abnormality of one or both β-globin genes. (psychiatryadvisor.com)
The amount of beta globin to be made depends on the inherited instructions on each person's genes. (tx.us)

Thalassemia is diagnosed with hemoglobin electrophoresis. (psychiatryadvisor.com)

Anatomy4

Diseases13

Chemicals and Drugs35

Analytical, Diagnostic and Therapeutic Techniques and Equipment9

Phenomena and Processes12

Disciplines and Occupations1

Information Science1

Geographicals5

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

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

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

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

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

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

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

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

Thalassemia

beta-Thalassemia

Hemoglobin E

alpha-Thalassemia

Fetal Hemoglobin

Globins

Hemoglobinopathies

Hemoglobin A2

alpha-Globins

Chelation Therapy

Hemoglobin J

Sicily

Arabia

Hemoglobins, Abnormal

Hemoglobin A

Iron Overload

Hemoglobinometry

Erythrocytes, Abnormal

Blood Transfusion

Anemia, Sickle Cell

Homozygote

Hemoglobins

Erythrocyte Count

Erythrocyte Indices

Heterozygote Detection

Reticulocytes

Erythropoiesis

Ferritins

Iron Chelating Agents

Splenectomy

Heterozygote

Erythrocytes

Erythrocyte Membrane

Deferoxamine

5'-Nucleotidase

Pyridones

Interleukin-1beta

beta-Globins

Base Sequence

Hemoglobin H

Mutation

beta 2-Microglobulin

Iron

Bone Marrow Transplantation

Phenotype

India

Sickle Cell Trait

Receptors, Adrenergic, beta

Integrin beta3

Hemosiderosis

delta-Thalassemia

Hemoglobin, Sickle

Transforming Growth Factor beta

Anemia, Hypochromic

Osmotic Fragility

Hemoglobin C

Hematopoiesis, Extramedullary

RNA, Messenger

Integrin alpha5beta1

Integrin beta4

Italy

Integrin alpha6beta4

delta-Globins

Integrin beta Chains

Benzoates

beta 2-Glycoprotein I

Erythrocyte Aging

Electronics, Medical

Integrin alpha4beta1

Anemia

Hemoglobin C Disease

Genes

Hemoglobin SC Disease

Melanesia

Integrin alpha2beta1

Receptors, Adrenergic, beta-2

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

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

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

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