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)

Key clinical point: Combination quercetin and desferrioxamine could decrease iron overload in patients with transfusion-dependent beta-thalassemia major.Major finding: Compared with placebo, combined therapy significantly improved high sensitivity C-reactive protein, ferritin, serum iron, transferrin, and transferrin saturation, but not tumor necrosis factor-alpha or total iron-binding capacity.Study details: A randomized clinical trial of 84 patients with transfusion-dependent beta-thalassemia major.
Liver iron concentration and liver impairment in relation to serum IGF-1 levels in thalassaemia major patients: A retrospective study
TY - JOUR. T1 - High prevalence of low bone mass in thalassaemia major. AU - Jensen, C E. AU - Tuck, S M. AU - Agnew, J E. AU - Koneru, S. AU - Morris, R W. AU - Yardumian, A. AU - Prescott, E. AU - Hoffbrand, A V. AU - Wonke, B. PY - 1998/12. Y1 - 1998/12. N2 - Cooleys original description of beta-thalassaemia major included marked bone deformities as a characteristic feature. These were thought to be due to expansion of haemopoiesis attempting to compensate for the congenital anaemia. Regular blood transfusions from infancy prevents these skeletal problems. Nevertheless, symptoms due to bone disease frequently occur in adult patients. Osteoporosis has not previously been reported as a cause of severe morbidity in thalassaemia major. The present study shows a high prevalence of low bone mass among thalassaemia major patients and analyses the predisposing causes. Bone density scans were performed in 82 patients with transfusion-dependent beta thalassaemia. Factors known to be associated with ...
Thalassemia is a disorder of production of one of the proteins of hemoglobin. Hemoglobin is a protein in red blood cells and is responsible for the transport of oxygen to tissues. Hemoglobin is made up of two proteins, alpha globin and beta globin.. Normal hemoglobin has two alpha and two beta globin protein chains. A deficiency or absence of the alpha 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 correct quality and quantity of beta globin. If the gene from one parent is missing or incomplete, the child will develop Beta-thalassemia minor. If the gene from both parents is missing, the child will develop Beta-thalassemia major or Cooleys anemia.. Thalassemia minor results in a microcytic red cell but otherwise there are no other sequelae. Thalassemia major results hemolysis. Newborns with ...
The purpose of this study is to optimize blood stem cell mobilization in adults with beta thalassemia major. We seek a method of mobilization that will be safe, with minimum side effects, and that will yield high numbers of blood stem cells. For successful gene therapy of thalassemia, high numbers of genetically modified stem cells will need to be introduced into the patient. Participants will include beta-thalassemia patients who failed to mobilize sufficiently with G-CSF (in our previous protocol) and new patients. In this study we will focus on the safety and effectiveness of mobilization with Mozobil or with Mozobil plus G-CSF. Following mobilization, blood stem cells will be recovered using leukapheresis, a procedure similar to a blood donation, in which mobilized white blood cells are collected from the blood of the patient.. During drug administration and leukapheresis, patients will be hospitalized at George Papanicolaou Hospital in Thessaloniki, Greece. Patients who failed to mobilize ...
Minihepcidins are hepcidin agonists that have been previously shown to reverse iron overload and improve erythropoiesis in mice affected by non-transfusion dependent thalassemia. 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. 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. Furthermore, this new model demonstrates, for the first time, cardiac iron overload. In absence of transfusion, Minihepcidin improved red blood cell morphology and lifespan as well as ineffective erythropoiesis. Administration of Minihepcidin in combination with chronic red blood cell transfusion further improved the ineffective erythropoiesis and splenomegaly and reversed cardiac iron overload.
BACKGROUND AND OBJECTIVE: The survival of patients with beta-thalassemia major and intermedia has improved considerably. This has focused attention on the long-term sequelae of the disease itself and its treatment. The effect of hemosiderosis in major organs (heart, liver, etc) are well-recognized, but the pathophysiology of any lung damage is less clearly understood. We studied lung function changes in 32 patients with beta-thalassemia. DESIGN AND METHODS: Respiratory function tests, CO diffusion and arterial blood gas analysis were performed on 19 patients with beta-thalassemia major (9 F, 10 M) and 13 with beta-thalassemia intermedia (6 M, 7 F). All investigations were performed 24 hours before the patients received a blood transfusion or when they were in a stable state hematologic condition. Echocardiography was performed in all patients and the ejection fraction was employed as a measure of cardiac function. RESULTS: No patient had clinical signs of pulmonary dysfunction. Pulmonary ...
A prospective randomized study on Safety, Tolerability and Efficacy of oral Low dose DFP (50 mg/kg/day) in minimally transfused B-TM after 5 transfusions when
Human beings have two beta and four alpha genes which are required to make protein chains. In beta thalassemia minor, the person has one abnormal beta gene which doesnt affect their health, while in beta thalassemia major, both the beta genes are abnormal. Beta thalassemia major is a fatal condition inherited by the offspring if both the parents have beta thalassemia minor. The patient of beta thalassemia major becomes dependant on blood transfusions, suffering from severe anemia, jaundice, spleen and liver enlargement and malfunctioning and bone problems.. ...
The left ventricular dimension and posterior wall dynamics were studied by computer assisted analysis of M mode echocardiography in 25 normal children (group 1) and 32 transfusion dependent children with beta thalassaemia major who had no evidence of heart failure (group 2). Twenty seven of those in group 2 remained well but five died of cardiac decompensation within 12 months. Compared with group 1, the left ventricular fractional shortening and ejection fraction were normal in those in group 2 who survived but diminished in those who died. Evaluation of left ventricular dimension and posterior wall dynamics during systole (peak shortening rate, peak velocity of circumferential fibre shortening, and peak posterior wall thickening rate) showed similar findings in that only the group who died had abnormal values. The left ventricular dimension and posterior wall diastolic dynamics (peak relaxation rate, normalised peak relaxation, peak wall thinning, and normalised peak wall thinning rate), ...
This trial will investigate the safety and tolerability and measures of efficacy of SB-BCLmR-HSPC [ST-400] in transfusion-dependent patients with
Combination quercetin and desferrioxamine could decrease iron overload in patients with transfusion-dependent beta-thalassemia major.
In cases of thalassemia major, infants are usually normal at birth but then become increasingly anemic over the next few months. If not treated, they will show signs of failure to thrive within the first year of life. Children maintain normal growth pattern if regular transfusions are received but can develop signs of iron overload by age 10 years if iron chelation are not used prophylactically. The first indication of iron overload is the absence of pubertal growth spurt and failure of menarche. Later onset anemia suggests intermedia subtype of β thalassemia. Beta Thalassemia Intermedia encompasses disorders with wide spectrum of clinical presentation. 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. Iron overload in this category typically presents in the fourth decade of life. There is high incidence of pigmented gall ...
Ancient DNA methodologies can be applied in the investigation of the genetics of extinct populations. A search for beta thalassemia mutations was performed on 49 Minoan individuals from the Bronze Age who were living in the island of Crete approximately 4000 Years Before Present (YBP). Standard precautionary measures were employed in the laboratory to ensure authenticity of the DNA extracted from the ancient bones, resulting in the successful analysis of DNA of 24 Minoans. DNA sequencing focused on the Intervening Sequence 1 (IVS-1) of the beta globin gene and its splicing junctions. 63% of the thalassemia mutations observed among modern Cretans reside in beta IVS-1. None of the Minoan individuals carried one of the IVS-1 mutations known to cause beta thalassemia; however, only one was expected to be observed if the average frequency of beta thalassemia heterozygotes in the Minoan population was the same with that of modern day Cretans (7.6%). One individual contained a C to G substitution in ...
Beta thalassemia is caused by mutations in the beta chain of the hemoglobin molecule. There are two types of Beta Thalassemia: beta thalassemia major (Cooleys anemia) - both (two) beta chain genes have deletions, causing the most severe type of beta thalassemia. Thalassemia major patients need frequent blood transfusions and may not survive a normal lifespan. During the first one to two years of life, they can be pale, fussy, have a poor appetite, and have many infections. Without treatment, the spleen, liver, and heart become enlarged, and bones can become thin and brittle. A major problem is the build up of iron in the heart and other organs, resulting in heart failure for some patients in their teens or early 20s. halassemia minor or thalassemia trait - one beta gene has a deletion, resulting in anemia. Thalassemia minor is further divided into: thalassemia minima - person has few or no symptoms. thalassemia intermedia - person has moderate to severe anemia.. Biliary Atresia ...
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. 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.. 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.. In the TIGET-BTHAL trial, patients with beta-thalassemia of any ...
The purpose of this study is to determine the effects of the oral iron chelator Deferasirox on liver iron content after one year of treatment in patients with iron overload from repeated blood transfusions. Beta-thalassemia patients unable to be treated with deferoxamine or patients with rare chronic anemias such as Myelodysplastic Syndrome, Fanconis Syndrome, Blackfan-Diamond Syndrome, and Pure Red Blood Cell Anemia are eligible for this study. Liver iron content will be measured by liver biopsy at the beginning of the study and after one year of treatment. However, those patients living in the San Francisco/Oakland area may have a SQUID in place of the liver biopsy if the biopsy is not medically possible for them. The SQUID is a non-invasive magnetic means to measure liver iron content ...
Patients with β thalassaemia major are dependent upon regular blood transfusions, and consequently are subjected to a large iron load. Accumulation of excess iron leads to heart failure. Iron chelation therapy can delay this process, but compliance is commonly poor. Severe cardiac failure in iron overloaded patients with β thalassaemia major has previously been reported as being invariably fatal.. A 21 year old man with β thalassaemia major was admitted with breathlessness. Examination revealed tachycardia, hypotension, and tachypnoea. He had a third heart sound, ankle oedema, raised venous pressure, smooth hepatomegaly, and dullness at the right base. Chest x ray showed cardiomegaly and a right pleural effusion. Ferritin was notably elevated (, 5000 μg/l). ECG showed sinus tachycardia. An echocardiogram (below left) showed severe left ventricular impairment (ejection fraction , 20%).. Despite diuretics the patient continued to decline. Inotrope and high dose desferroxiamine (70 mg/kg/day) ...
CHICAGO, July 29, 2011 /PRNewswire/ -- Errant Gene Therapeutics, LLC (EGT), a pioneering boutique drug development firm specializing in Rare Diseases, announced the transfer of its clinical grade lentiviral vector, TNS 9.55.3, to Memorial Sloan Kettering Cancer Center (MSKCC). TNS 9.55.3 developed by EGT pursuant to an exclusive license agreement with Sloan Kettering Institute (SKI), will be used for MSKCCs upcoming beta Thalassemia human clinical trial. The trial protocol provides for the in vitro treatment of beta-thalassemia patients, offering the prospect for a cure for a chronic condition which would otherwise subject the patient to early death without incurring life-long regular blood transfusions and chelation therapy.. A new definitive agreement between EGT and SKI provides for MSKCC to lead the clinical trials and arrange for drug development partnerships for the treatment of beta-Thalassemia and Sickle Cell Disease, two of the worlds most prevalent and devastating hereditary ...
The most common severe hemoglobin disorder is related to mutations in the β-subunits and is thus termed β-thalassemia. If both genes are affected, symptoms are much more severe and the disease is then referred to as β-thalassemia major.. The defects in the genes result in ineffective formation of red blood cells and damage to existing red blood cells. As a result, β-thalassemia major patients typically present with life-threatening anemia within the first year of life and if left untreated will have a life expectancy of no more than three years. Other symptoms include jaundice, enlarged organs, misshapen bones and stunted growth.. There is currently no approved curative treatment for β-thalassemia major. Its main symptom, anemia, is treated through regular and lifelong red blood cell transfusions, which are generally needed every two to four weeks. However, this frequently leads to iron overload, which is the principal cause of mortality in β-thalassemia major patients. To control iron ...
The most common severe hemoglobin disorder is related to mutations in the β-subunits and is thus termed β-thalassemia. If both genes are affected, symptoms are much more severe and the disease is then referred to as β-thalassemia major.. The defects in the genes result in ineffective formation of red blood cells and damage to existing red blood cells. As a result, β-thalassemia major patients typically present with life-threatening anemia within the first year of life and if left untreated will have a life expectancy of no more than three years. Other symptoms include jaundice, enlarged organs, misshapen bones and stunted growth.. There is currently no approved curative treatment for β-thalassemia major. Its main symptom, anemia, is treated through regular and lifelong red blood cell transfusions, which are generally needed every two to four weeks. However, this frequently leads to iron overload, which is the principal cause of mortality in β-thalassemia major patients. To control iron ...
Mediterranean anemia (thalassemia major). Hematology: Diagnostic in Aachen, Germany ✈. Prices on BookingHealth.com - booking treatment online!
The page below is a sample from the LabCE course Beta Thalassemia. Access the complete course and earn ASCLS P.A.C.E.-approved continuing education credits by subscribing online ...
The type of beta thalassemia mutation found in heterozygous individuals is believed to influence hematological symptoms. Our data demonstrated that patients with the mild mutation (beta IVSI-nt 6) have a higher mean corpuscular hemoglobin (MCH) than those with the severe forms (beta(0)039 or beta IVSI-nt 1), and the hemoglobin A(2) levels were lower in beta(0) mutations than in the beta IVSI-nt 6 mutation. However, in contrast to previous studies, we were not able to indicate MCH as a clear discriminator between the beta(0) and beta(+) mutations ...
Background Thalassemia is a group of congenital disorders which is characterized by a deficient synthesis of alfa or beta globulin chains in hemoglobin molecules. Due to the problems resulting from changes in face, especially in dento-maxillary regions, such patients require special attention regarding oral health. Thus in this study, we aimed to assess the dento-maxillofacial changes in Beta-thalassemia major (BTM) children and Adolescent patients in Northern Iran. Methods BTM subjects aged 2-15 years and their systemically healthy controls were evaluated in this case-control study. Dento-maxillary changes (spacing, crowding, Posterior cross bite, open bite, deep bite, overjet), dental occlusion, and facial changes (maxillary protrusion, malar prominence, saddle nose and frontal bossing), were evaluated. Data was analyzed SPSS version 22.0. Results There were 66 BTM patients and 66 healthy controls in this study, including 40.9% male and 59.1% females. The average age was 12 ±3.31years. Open bite (P
Read on Correlation of Serum Ferritin Levels with Liver Function Tests and Anthropometric Measurements in Transfusion Dependent Beta-Thalassemia Major Children: A Cross Sectional Study.
Non-transferrin bound iron (NTBI) is detectable in plasma of beta-thalassemia patients and participates in free-radical formation and oxidative tissue damage. Desferrioxamine (DFO), deferiprone (DFP) and deferasirox (DFX) are iron chelators used for treatment of iron overload; however they may cause adverse effects. Curcuminoids (CUR) exhibits many pharmacological activities and presents beta-diketone group to bind metal ions. Iron-chelating capacity of CUR was investigated in thalassemic mice. The mice (C57BL/6 stain); wild type ((mu)beta(+/+)) and heterozygous beta-knockout ((mu)beta(th-3/+)) were fed with ferrocene-supplemented diet for 2 months, and coincidently intervened with CUR (200 mg/kg/day) and DFP (50 mg/kg/day). Plasma NTBI was quantified using NTA chelation/HPLC method, and MDA concentration was analyzed by TBARS-based HPLC. Hepatic iron content (HIC) and total glutathione concentration were measured colorimetrically. Tissue iron accumulation was determined by Perls staining. ...
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 hem
The only curative treatment option for transfusion-dependent beta-thalassemia is allogeneic hematopoietic stem cell transplant (HSCT), a procedure in which a patient receives blood stem cells from a donor. The donors stem cells produce a supply of new blood cells with functioning beta-globin.. The best results for allogeneic HSCT occur with blood stem cells from a donor with a matching tissue type, usually a sibling. However, less than 25 percent of patients who are candidates for transplantation have a sibling with such a match.. Additionally, results of allogeneic HSCT in adults are less than optimal, especially when a sibling matched donor is not available. Children have fewer complications compared to adults when treated with allogeneic HSCT. Additional treatment options are needed. ...
Trial of HQK-1001 in Beta Thalassemia Intermedia Trial of HQK-1001 in Beta Thalassemia Intermedia in Lebanon After a screening peri
α-Thalassemia major is the result of a two α-chain gene deletion. These deletions may be on same gene (-/αα, α0-thalassemia) described as cis-deletion or on different genes (-α/-α, α+-thalassemia) described as trans deletion. The CBC shows mildly reduced Hb level with low MCV and MCH. HbF and HbA2 within reference level. The presence of thalassemic indices in patient with normal HbA2 and HbF is often the basis for diagnosis of α-thalassemia major, particularly if family history is positive. ...
Beta-thalassemia is due to a defect in the synthesis of the beta-globin chains, leading to alpha/beta imbalance, ineffective erythropoiesis, and chronic anemia. The spectrum of thalassemias is wide, with one end comprising thalassemia minor, which consists of a mild hypochromic microcytic anemia with no obvious clinical manifestations, while on the other end is thalassemia major, characterized by patients who present in their first years of life with profound anemia and regular transfusion requirements for survival. Along the spectrum lies thalassemia intermedia, a term developed to describe patients with manifestations that are neither mild enough nor severe enough to be classified in the spectrum s extremes. Over the past decade, our understanding of β-thalassemia intermedia has increased tremendously with regards to molecular information as well as pathophysiology. It is now clear that β-thalassemia intermedia has a clinical presentation as well as complications associated with the disease ...
Read the 115 FAQ on BMT written by Dr. Pietro Sodani to know how your child can become thalassemia free with no more transfusions.
Derya G le , Sibel Bilgili, Nuriye Uzuncan, Giray Bozkaya, Nur Soyer, Baysal Karaca. β-Thalassemia Mutation At Codon 37 (TGG>>TGA) Detected In A Turkish Family. Turk J Hematol. 2013; 30(3): 331- ...
Free Online Library: ASSESSMENT OF SERUM CALCIUM AND PHOSPHORUS LEVELS AMONG TRANSFUSION-DEPENDENT BETA THALASSEMIA MAJOR PATIENTS ON CHELATION THERAPY.(Report) by Journal of Postgraduate Medical Institute; Health, 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
Due to the recent alarming increase in the incidence of hepatocellular carcinoma (HCC) in thalassemias, the aim of the present report is to review briefly the frequency, the major risk factors and the surveillance of HCC in β-thalassemias. Over the past 33 years, 153 cases of HCC were reported in patients with thalassemia, mainly in Italy, and Greece. Among HCV-infected patients additional factors promoting development of HCC, included: advanced age, male sex, chronic hepatitis B (CHB) coinfection, and iron overload. For early diagnosis of HCC sequential ultrasound screening is recommended especially for thalassemia patients with chronic hepatitis C (CHC), that coincide with (one or more) additional risk factors for HCC. Here we report also the preliminary data of thalassemic patients, above the age of 30 years, followed in 13 different centers. The total number of enrolled patients was 1,313 (males: 612 and 701 females). The prevalence of HCC in thalassemia major patients [characterized by ...
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.Today, there are some 550 adults with beta thalassemia in Cyprus requiring regular blood transfusions, while almost 35-40% of ann
Thalassaemia major: also called Mediterranean anemia or Cooley anemia. It is caused by severe mutations in both alleles. No functional ß chains are produced, and thus no haemoglobin A can be assembled. This is he most severe form of ß-thalassemia: those with thalassaemia major need to have regular blood transfusions from infancy onwards in order to survive. Long term transfusions can lead to iron overload, so this patients also need iron chelating therapy ...
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Introduction. The oxidative status of cells is determined by the balance between pro-oxidants and antioxidants. Oxidants are compounds that can accept electrons, as opposed to reductants that donate electrons. Pro-oxidants are referred to as reactive oxygen species (ROS). The toxicity of ROS depends on their reactivity and life span. Longer life span permits them to diffuse, interact with sensitive biological substrates and cause damage to various organelles. Most of the transition metals, such as iron, can convert relatively stable oxidants into powerful radicals. Excess iron catalyzes hydroxyl radical generation from activated oxygen species by the Haber-Weiss and Fenton reactions.1. The intracellular response to oxidative-stress in erythropoiesis involves the transcription factor, Forkhead box O3a (FoxO3a), which controls pathway(s) regulating erythroid maturation and the levels of oxidative stress in murine erythropoiesis.2 Activation of FoxO3a has been proposed as a protective mechanism in ...
Its not clear to me how much Ryanodex sales could peak out at, or how much of Treandas sales Eagle Pharmaceuticals bendamustine will capture, but these drugs, plus the potential sales tied to other drugs in development, make this stock interesting.. No. 3: bluebird bio (NASDAQ:BLUE)Bluebird bio has also delivered nearly triple-digit returns for investors over the past few months as the companys market cap sky-rocketed to $6.4 billion.. Thats a pretty lofty valuation for a clinical-stage company that doesnt have any products on the market, and for that reason investors will need bluebird bios pipeline to produce some blockbuster therapies.. The closest of bluebird bios drugs to market is Lentiglobin BB305, a gene therapy for use in treating beta thalassemia major patients. BB305 is an infusion drug therapy that involves inserting a functioning beta globin gene into a patients own hematopoietic stem cells outside the body and then infusing those cells back into the body. The therapy has ...
We present the case of a 48-year-old premenopausal woman with right lumbosciatalgia secondary to osteoporosic vertebral collapses. Two of her three offsprings, a 31-year-old man and a 16-year-old woman, had chronic dorsolumbalgia, the study of which suggested the diagnosis of minor beta-thalassemia. As opposed to thalassemic osteoarthropathy, frequently observed in the forms of major and minor beta-thalassemia, rheumatic manifestations have almost never been described in the minor forms. We highlight the possibility of symptomatic osteoporosis as the first manifestation and we review the locomotive disorders associated to this hemoglobinopathy ...
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...
Medicine Journal in MJB authors are : Mahdi Yakoob Kzar,Ali Mihsen Hussein Salivary Iron And Ferritin Levels, Orofacial Complications of Patients With Thalassemia Major In Babylon Teaching Hospital For Maternity and Children university of babylon journals in the repository for farther content please log to http://repository.uobabylon.edu.iq
Anemia is a peer-reviewed, Open Access journal that publishes original research articles, review articles, and clinical studies on all types of anemia. Articles focusing on patient care, health systems, epidemiology, and animal models will be considered, among other relevant topics.
Ledipasvir and sofosbuvir yielded 100% SVR in patients with thalassemia major, a genetic disease, who become infected with hepatitis C virus genotypes 1 and 4.
Looking for online definition of beta-thalassemia in the Medical Dictionary? beta-thalassemia explanation free. What is beta-thalassemia? Meaning of beta-thalassemia medical term. What does beta-thalassemia mean?
Synonyms for Beta thalassemia in Free Thesaurus. Antonyms for Beta thalassemia. 3 synonyms for thalassemia: Mediterranean anaemia, Mediterranean anemia, thalassaemia. What are synonyms for Beta thalassemia?
Semantic Scholar extracted view of Invasive disease due to Yersinia enterocolitica in children with beta-thalassemia major. by Lucia Pacifico et al.
Hamid et al. 2016. Thalassemia minor is known to be a hereditary disease involving affected globin chains. In Thalassemia minor, the fetus inherits haemoglobin genes during fertilization, each from the mother and the father, respectively.
UNICO Delmarva Chapter held a fundraiser walk for Cooleys Anemia Foundation May 6 at St. Edmond Catholic Church in Rehoboth Beach. Cooleys Anemia, also known as thalassemia, is a major form of genetic blood disease. The mission of the Cooleys...
Background: Recent advances in the management of thalassemia have significantly improved life expectancy and quality of life of patients with this hemoglobinopathy, with a consequent increase in their reproductive potential and desire to have children. Design and Methods: We describe the methods of conception and delivery, as well as the course and outcome of pregnancy including transfusions, iron overload and chelation in 46 women with thalassemia major (58 pregnancies) and in 11 women with thalassemia intermedia (17 pregnancies). Conception was achieved after gonadotrophin-induced ovulation in 33 of the women with thalassemia major and spontaneously in all of those with thalassemia intermedia. Results: Among the women with thalassemia major, 91% of the pregnancies resulted in successful delivery of 45 singleton live-born neonates, five sets of twins and one set of triplets. No secondary complications of iron overload developed or worsened during pregnancy. When considering only the singleton ...
PubMed journal article: Serum transferrin receptor levels in beta-thalassemia trait. Download Prime PubMed App to iPhone, iPad, or Android
TY - JOUR. T1 - Non-invasive haemoglobin estimation in patients with thalassaemia major. AU - Al Khabori, Murtadha K.. AU - Al-Riyami, Arwa Z.. AU - Al-Farsi, Khalil. AU - Al-Huneini, Mohammed. AU - Al-Hashim, Abdulhakeem. AU - Al-Kemyani, Nasser. AU - Al-Qarshoubi, Issa. AU - Khan, Hammad. AU - Al-Amrani, Khalfan. AU - Daar, Shahina. PY - 2014/11/1. Y1 - 2014/11/1. N2 - Objectives: This study aimed to validate pulse CO-oximetry-based haemoglobin (Hb) estimation in children and adults with thalassaemia major (TM) and to determine the impact of different baseline variables on the accuracy of the estimation. Methods: This observational study was conducted over a fve-week period from March to April 2012. A total of 108 patients with TM attending the daycare thalassaemia centre of a tertiary care hospital in Muscat, Oman, were enrolled. Spot (Sp) Hb measurements were estimated using a Pronto-7® pulse CO-oximetry device (Masimo Corp., Irvine, California, USA). These were compared to venous samples ...
Thalassemia major is a genetic disorder affecting hemoglobin synthesis, rendering individuals dependent upon lifelong blood transfusions. Consequently, iron overload occurs and patients have shortened life expectancy with the most common cause of death being heart failure. This trial tests whether the combination of traditional therapy (deferoxamine) with a newer drug (deferiprone) will prove more effective in removing cardiac iron than deferoxamine alone.
Patients with severe thalassaemia major suffer endocrine and other abnormalities before their eventual death from iron overload due to repeated blood transfusions. The endocrine status of 31 thalassaemic patients aged 2-5 to 23 years was investigated. Exact data were available on the rate and duration of blood transfusion in all of them and in many the liver iron concentration was also known. Although the patients were euthyroid, the mean serum thyroxine level was significantly lower, and the mean thyrotrophic hormone level significantly higher, compared with the values found in normal children. Forty oral glucose tolerance tests with simultaneous insulin levels were performed in 19 children, of whom 5 developed symptomatic diabetes and one had impaired tolerance. Previous tests on all 6 patients were available and some showed raised insulin levels possibly due to insulin resistance. 2 patients had clinical hypoparathyroidism and are described. The parathyroid hormone levels determined by ...
Four Lankan kids cured of thalassaemia major in India, Four Sri Lankan children suffering from thalassaemia major were cured of the disease through bone marrow transplantation in Bengaluru.
Impaired puberty, which occurred in approximately 77 % of our patients, was the most common endocrine abnormality. The prevalence of other endocrinopathies was much lower: 17.5 % hypogonadism, 8.7% diabetes mellitus, 7.7% primary hypothyroidism, and 7.6% hypoparathyroidism. Three out of 39 postmenarchal patients had secondary amenorrhea. Impaired puberty seems to be more prevalent in our study compared to study of Italian working group [14]. Hypogonadism in our study was considerably lower than other studies. In a longitudinal study, prevalence of hypogonadism has been reported to be as much as 75% in girls and 62% in boys [16]. In our study diabetes was present in 8.7% of the patients. This is considerably higher than the 4.9% of patients developing IDDM in a recent study by the Italian Working Group [14]. It is unclear whether diabetes in β-thalassemia major is related to genetic factors [14, 16]. It seems that our diabetic patients were of younger ages at the time of diagnosis in comparison ...
Last week, CryoSave released a cord blood stem cell unit from the state of the art laboratory in Geneva for the clinical treatment of a young boy who suffers from thalassemia major. The 9 year old patient will receive an allogeneic transplant in Switzerland of the cord blood stem cells from his now 2 year old brother.. Zutphen, The Netherlands - 25 April 2017. Beta thalassemia, is a genetic abnormality of the hemoglobin molecule whereby patients do not transport oxygen properly in their red blood cells. From around 2 years of age, children typically become chronically anemic, tired and prone to infection. They fail to grow normally and are, in the severest cases, dependent on blood transfusions for survival, with the inherent risks and complications that this may bring.. Hemoglobinopathies are included in the current list of around 70 diseases that can be treated with stem cells. They are a group of genetic defects that result in the abnormal structure of one of the globin chains of the ...
Sinasi Nasih Ozsoylu. Did the proband have thalassemia intermedia or severe thalassemia trait?. Turk J Hematol. 2012; 29(1): 99- ...
Glyco-metabolic status was evaluated in 29 pubertal homozygous thalassaemics aged from 17 to 42 years and in 12 age-matched healthy subjects. Diagnosis of diabetes mellitus was assessed in 4 patients (13.8%), who became diabetic after the age of 18 years. With respect to controls non-diabetic patients exhibited significantly higher fasting plasma glucose levels and more sustained glycemic responses to oral glucose tolerance test, whereas their overall insulin output was significantly lower. Moreover non-diabetic thalassaemic patients showed a clear reduction of both beta-cell function and insulin resistance indices (HOMA model). In conclusion our data show a high prevalence of diabetes but do not support the existence of an insulin resistant status in thalassaemia major, at least in adulthood.. ...
Beta-thalassemia is due to a defect in the synthesis of the beta-globin chains, leading to alpha/beta imbalance, ineffective erythropoiesis, and chronic anemia. The spectrum of thalassemias is wide, with one end comprising thalassemia minor, which co
1NQP: Crystallization and preliminary X-ray structural Studies of Hemoglobin A2 and Hemoglobin E, isolated from the blood samples of Beta-thalassemic patients
bluebird bio, Inc. (Nasdaq: BLUE), a clinical-stage company committed to developing potentially transformative gene therapies for severe genetic and r
ABSTRACT Introduction: Regular blood transfusion for β-thalassemia patients is a life-saving therapy, hence, it results in iron overload lead to immune dysregulation triggered by chronic activation of immune system. This fundamental notion contributes to their morbidity and mortality. Monocyte plays a critical role in regulating and bridging innate to adaptive immunity. Our pilot study analyzed the presence of activation markers, CD14 and CD69, on monocyte of major β-thalassemia patients associated with their iron status. Method: Fifty pediatric β-thalassemia patients routinely visited thalassemia clinic for clinical examination and blood transfusion were involved in this cross-sectional study. Flow cytometry applying antibody of CD14, HLA-DR, CD69 was used to dissect CD14+CD69+ monocytes from lysed-erythrocyte heparinized whole blood and defined as cell percentage also median fluorescent intensity (MFI) of CD69 of CD14+CD69+ monocytes. Iron status was indicated by ferritin and serum iron ...
BACKGROUND and AIM. Ventilatory restrictive (RES) impairment has been described in β-thalassemia, but no evidence exists on the causal mechanism. We investigated relationships among lung function, iron overload and clinical parameters in a homogeneous series of β-thalassemia major adult patients.. METHODS. We studied 79 patients (males M/ females F 44/35; age 34.5±6.8 years) with β-thalassemia major on regular transfusion and iron chelation. Iron overload was assessed by serum ferritin, liver iron concentration (LIC) by SQUID susceptometry, cardiac iron by MRI T2*. Lung volumes, diffusion capacity, chelator drugs, hypogonadism (H), hypothyroidism and osteoporosis were evaluated in stable hematologic conditions.. RESULTS. 30/79 pt (38%) [ 21/44 (47.7%) M and 9/35 (25.7%) F] showed RES, 6 bronchial obstruction with no gender differences (3M 3F). In F LIC was higher 2249±903 vs 1497±553 mgFe/gliver dw; p,0.008 in RES vs normals and correlated with total lung capacity (r=-0.402 p,0.03). No ...
Approximately 5% of the worlds population suffers from anemia due to mutations in the human globin gene. While the mutations that cause Cooleys anemia (CA) an...
Abstract. Background: Thalassemia and abnormal hemoglobin are the most common genetic disorders and are considered health problems in many developing countries. Beta-Thalassemia major is the most familiar type, in which the beta-globin chain synthesis is impaired.Objective: To evaluation the concentrations of immunoglobulins IgM, IgG and IgA also the complements C3 and C4 between β-Thalassimic children patients and control group, and find the differences of some hematological parameters between the two groups, finally, isolation of some bacterial species causes the bacterial infections.Patients and Methods: The present study was performed on 40 β-thalassemia major children who were registered in the thalassemia center at Al-Karama teaching hospital in Baghdad and 20 healthy children as a control group from the period of September 2015-Augest 2016, the serum immunoglobulins (IgG, IgM, IgA) and complement C3, C4 levels were measured also blood culture was done to identify the causative ...
Background: A high incidence of thrombotic events in thalassemia intermedia (TI) patients led to the identification of a hypercoagulable state. Brain involvement has not been widely studied in TI, although limited reports confirm a low incidence of overt stroke and high incidence of silent brain infarcts. Patients-methods: This was a prospective study conducted on 30 adult, splenectomized TI patients. Patients were screened for absence of neurological signs or symptoms, and stroke-related risk factors. Patient charts were reviewed for demographics, duration since splenectomy, and any history of transfusion therapy. Blood samples were obtained for complete blood counts and serum ferritin. Direct determination of liver iron concentration (LIC) was performed by R2 magnetic resonance imaging (MRI). Brain MRI was performed on all patients, looking for ischemic lesions and-or atrophy. Results: The mean age of patients was 32.1 ± 11 years (range, 18-54 years), with a male to female ratio of 13:17. ...
BACKGROUND: Cardiovascular magnetic resonance (CMR) by delayed enhancement (DE) enables visualisation of myocardial scarring, but no dedicated studies are available in thalassaemia major. OBJECTIVE: To investigate the prevalence, extent, clinical and
Hereditary haemochromatosis (HHC) is a frequent disease in Brittany (5 to 7‰), responsible first for biological disorder in blood iron parameters and minor clinical disorders, before evolving to potential life-threatening consequences such as diabetes, liver cirrhosis and congestive heart failure. The improvement of screening and treatments made those severe affections rare enough not to evaluate myocardial iron overload a systematic part of the starting check-up. Nonetheless this myocardial iron overload might have severe implications on cardiac function on a long term basis. A single trial was conducted on limited number of patients with 1.5 Tesla MRI, which showed a myocardial iron overload (defined by a myocardium T2* value ...
Programs for education, screening, and counseling of senior-high-school students, in populations at high risk for Tay-Sachs and beta-thalassemia diseases, have existed for ,20 years in Montreal. Four process and outcome ...
n normal individual, hemoglobin consists of two alpha chains and two beta chains. Beta thalassemia is associated with point mutation of the beta globin chain of the hemoglobin of the chromosome 11. Beta thalassemia may present with reduced production o
Beta thalassemia is an inherited blood disorder. This means it is passed down through the parents genes. It is a form of anemia. Anemia is a low red blood cell or low hemoglobin level. Hemoglobin is part of red blood cells. It carries oxygen to organs, tissues, and cells. Beta thalassemia affects the production of hemoglobin.
Heritable anemia presents an array of chronic symptoms that in many instances arise shortly after birth and persist throughout a patients life. Beyond the direct morbidity associated with chronic anemia, the use of regular blood transfusions can lead to a host of other complications, including iron aggregation throughout the body that can produce serious complications of the heart, liver, and hormone production. More permanent treatments involving bone marrow transplants can reduce or eliminate the need for blood transfusions, but come with their own possible complications including secondary infections and eventual sensitization and rejection of the transplant tissue. Dr. Christopher Lux has a strong clinical understanding and first-hand experience with pediatric hematology and oncology, with a special focus on two hemoglobinopathies, sickle cell disease and beta thalassemia, that arise from hemoglobin gene mutations. The basis of Dr. Luxs research is to develop more effective and permanent ...
Background: Deferasirox (DFX), Deferoxamine (DFO), and Deferiprone (DFP) are iron chelators that can be used in thalassemic patients with iron overload. Materials and Methods: This clinical trial was performed on 108 thalassemic patients who were randomly divided into group A (n=54) and B (n=54). Group A received combination of DFX and DFP, and ...
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TY - JOUR. T1 - An uncommon cause of abdominal pain in a patient with thalassemia intermedia. AU - McDonald, Kymberly. AU - Kermalli, Husnain. AU - Majumder, Shounak. AU - Naut, Edgar. PY - 2014/7. Y1 - 2014/7. UR - http://www.scopus.com/inward/record.url?scp=84903140794&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=84903140794&partnerID=8YFLogxK. U2 - 10.1016/j.amjmed.2014.03.005. DO - 10.1016/j.amjmed.2014.03.005. M3 - Article. C2 - 24657334. AN - SCOPUS:84903140794. VL - 127. SP - e17-e18. JO - American Journal of Medicine. JF - American Journal of Medicine. SN - 0002-9343. IS - 7. ER - ...
Thromboses are a serious complication in patients with sickle cell disease, paroxysmal nocturnal hemoglobinuria, beta-thalassemia major, or thalassemia intermedia. Despite prophylaxis, thrombotic events can continue and can result in severe physical or mental debilitation or death of the patient. The fact that thrombosis does not occur in all patients with hemolytic anemias suggests that multiple factors interact to cause the coagulation crisis. Genetic modifiers, associated diseases, nutritional status, infections, environment, and treatment modalities are variables implicated in thrombophilia. The complexity confounds attempts to identify single causative agents in humans with hemolytic anemias. In the past year, mutations in putative genetic modifiers of the coagulation response have been examined as risk factors in patients with a history of thromboses; red cell binding sites on endothelial cells have been identified; and mouse models of thrombogenesis that permit experimental
Aim: This study aimed to examine the aggregation activity of basic regular blood elements of calves during the milk-feeding phase.. Study Design: The study was initiated in 39 black and white breed calves, which were examined at the ages of 11, 15, 20, 25 and 30 daysat Kolos farm in the Fatezh district of the Kursk region, Russia, in spring, 2014.. Methods: We used biochemical, haematological and statistical methods of investigation. We estimated the intensity of lipid peroxidation (LPO) in the plasma, as well as the aggregation of erythrocytes, platelets and neutrophils.. Results: It was found that the calves had an upwards trend of spontaneous erythrocyte aggregation during the milk-feeding phase. This was identified by a slight upwards trend in the total quantity of erythrocytes in an aggregate, an increase in the quantity of the aggregates themselves and a decreased number of disaggregated erythrocytes. All the calves had a trend towards an increase of platelet aggregation during the ...
Read Oxidative Effects of Gemfibrozil on Anion Influx and Metabolism in Normal and Beta-Thalassemic Erythrocytes: Physiological Implications, The Journal of Membrane Biology on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
We report on an eight-year-old Brazilian girl with S-β+ thalassemia. The patient had a steady 10.1 g/dl hemoglobin with 57% HbS. Direct sequence analysis of β-globin gene showed her to be heterozygous for the IVS-I-6 (T→C) mutation. This β+ thalassemia mutation, sometimes referred to as the Portuguese type, was found to be associated with the C→T polymorphism at codon 2. In combination with the β(s) gene, this mutation results in very mild sickle cell disease symptoms ...
Thrombocytopenia 2 (THC2) is one of the most prevalent forms of inherited thrombocytopenia. It is caused by a heterogeneous group of ANKRD26 gene mutation and shows a heterogeneous clinical and laboratory characteristics. We present a big Chinese family with 10 THC2 patients carrying c.-128G > T heterozygous substitution in the 5-untranslated region of the ANKRD26 gene. Although the platelets are fewer than 50 × 109/L in 8 THC2 family members, only the proband and her son show a higher WHO bleeding score. The proband and her son are also beta-thalassemia carriers with heterozygous c.52A > T mutation of HBB, which might not be associated with the increased bleeding tendency since 3 other family members with low bleeding tendency also carried both ANKRD26 c.-128G > T and HBB c.52A > T mutations. However, the proband and her son also show hypofibrinogenaemia, which is likely the cause of their more severe clinical manifestation. HID1 c.442G > T mutation was detected not only in these two
Blessings to all of you and your search for healing. Please suspect immune dys regulation and inflammation as a root cause of so many symptoms when the doctors say there is nothing wrong we can find and its all in your head. Take that as a good sign that you can recover before the disease state as a result of immune hormonal imbalances. Even after a disease state, once the imbalance is corrected the disease can go away. Again my condition was life threatening and was prepared to die in the hospital every time due to platelets below 5000. That is how severe immune hormonal imbalances can get. I recommend the book: The Balance Within. Google it on amazon. It is a life saver.. ...
a fatal form of homozygous thalassemia (inherited from both parents) in which there is no hemoglobin; skeletal deformations; heart and spleen and liver enlarged. ...
Beta thalassemia is a blood disorder in which the body has a problem producing beta globin, a component of hemoglobin, the protein in red blood cells that transports oxygen throughout the body.
In Beta thalassemia there is an abnormality in the production of beta chains which causes the red cells to more easily breakdown resulting in mild to severe anemia depending on the type that is present.
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, ...
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 ...
Extended red blood cell phenotyping is also recommended for people with beta-thalassemia. Blood group systems other than ABO ...
"Beta-thalassemia". Orphanet Journal of Rare Diseases. 5: 11. doi:10.1186/1750-1172-5-11. ISSN 1750-1172. PMC 2893117. PMID ...
This mutation is almost exclusive of the inhabitants of Sardinia and is a common cause of beta thalassemia. According to a 2010 ...
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. ...
... "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 ...
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 ...
"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 ...
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 ...
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, ...
... 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 ...
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 ...
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 ...
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- ...
"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 ...
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: ...
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 ...
Beta-Thalassemia. *Familial Mediterranean fever. *Glucose-6-phosphate dehydrogenase deficiency and Gilbert's Syndrome ...
beta-ketothiolase deficiency. *beta thalassemia. *bladder cancer. *breast cancer. *carnitine palmitoyltransferase I deficiency ...
Beta-thalassemia (due to expansion of bone marrow secondary to increased hematopoiesis)[5] ...
Beta-thalassemia major anemia. *Beta-thalassemia (gene promoter involvement). *Bethlem myopathy. Bh[edit]. *Bhaskar Jagannathan ...
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 ...
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 ...
... as well as in beta-thalassemia and hemochromatosis.[2] References[edit]. *^ Rooks J, Ory H, Ishak K, Strauss L, Greenspan J, ...
... 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 ...
hemoglobinopathy: Thalassemia (alpha, beta, delta) · Sickle-cell disease/trait · HPFH membrane: Hereditary spherocytosis( ...
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 ...
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 ...
hemoglobinopathy: Thalassemia *alpha. *beta. *delta. *Sickle-cell disease/trait. *HPFH. *membrane: Hereditary spherocytosis * ...
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- ...
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 ...
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. ...
"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 ...
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 ...
Alpha-thalassemia mental retardation syndrome. *Siderius X-linked mental retardation syndrome. *Eye disorders: Color blindness ...
... 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". ...
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)- ...
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 ...
Alpha-thalassemia mental retardation syndrome. *Siderius X-linked mental retardation syndrome. *Eye disorders: Color blindness ...
... 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 ...
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 ...
"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 ...
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 ...
... 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 ...
... 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 ...
... 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 ...
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 ...
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 ...
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. ...
... 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 ...
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. ...
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: ...
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 ...
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 ...
... 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 ...
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. ...
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. ...
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 ...
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. ...
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 ...
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 ...
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 ...
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 ...
I have been diagnosed as a Beta Thalassemia Minor since few years ago. I have always been slightly anaemic (around 10.5-11.5 ...
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. ...
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. ...
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 ...
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: ...
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 ...
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 ...
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 ...
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 ...
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. ...
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 ...
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 ...
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- ...
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. ...
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 ...
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 ...
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 ...
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 ...
... beta-thalassemia, thalassemia, autosomal recessive, genetic disorder ...
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. ...
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 ...
  • 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)
  • 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)
  • 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)
  • 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)