Thalassemia: 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.beta-Thalassemia: 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.Hemoglobin E: 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.alpha-Thalassemia: 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.Fetal Hemoglobin: 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.Globins: A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.Hemoglobinopathies: A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.Hemoglobin A2: 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.alpha-Globins: 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.Chelation Therapy: 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.Hemoglobin J: 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.SicilyArabia: 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, Abnormal: 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.Hemoglobin A: Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.Iron Overload: 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)Hemoglobinometry: Measurement of hemoglobin concentration in blood.Erythrocytes, Abnormal: Oxygen-carrying RED BLOOD CELLS in mammalian blood that are abnormal in structure or function.Blood Transfusion: The introduction of whole blood or blood component directly into the blood stream. (Dorland, 27th ed)Anemia, Sickle Cell: 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.Homozygote: An individual in which both alleles at a given locus are identical.Hemoglobins: 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.Erythrocyte Count: The number of RED BLOOD CELLS per unit volume in a sample of venous BLOOD.Erythrocyte Indices: 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).Heterozygote Detection: Identification of genetic carriers for a given trait.Reticulocytes: 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.Erythropoiesis: 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.Ferritins: 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.Iron Chelating Agents: 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.Splenectomy: Surgical procedure involving either partial or entire removal of the spleen.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Erythrocytes: Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.Erythrocyte Membrane: The semi-permeable outer structure of a red blood cell. It is known as a red cell 'ghost' after HEMOLYSIS.Deferoxamine: Natural product isolated from Streptomyces pilosus. It forms iron complexes and is used as a chelating agent, particularly in the mesylate form.5'-Nucleotidase: 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.Pyridones: Pyridine derivatives with one or more keto groups on the ring.Interleukin-1beta: 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.beta-Globins: 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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Hemoglobin H: 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.Mutation: 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.beta 2-Microglobulin: 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.Iron: 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.Bone Marrow Transplantation: 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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.IndiaSickle Cell Trait: The condition of being heterozygous for hemoglobin S.Receptors, Adrenergic, beta: 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.Integrin beta3: 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.Hemosiderosis: 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.delta-Thalassemia: 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.Hemoglobin, Sickle: 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.Transforming Growth Factor beta: 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, Hypochromic: 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)Osmotic Fragility: 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.Hemoglobin C: 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.Hematopoiesis, Extramedullary: The formation and development of blood cells outside the BONE MARROW, as in the SPLEEN; LIVER; or LYMPH NODES.RNA, Messenger: 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.Integrin alpha5beta1: 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.Integrin beta4: 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.ItalyIntegrin alpha6beta4: 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.delta-Globins: 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: 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.Benzoates: Derivatives of BENZOIC ACID. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the carboxybenzene structure.beta 2-Glycoprotein I: 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.Erythrocyte Aging: 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.Electronics, Medical: 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: 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.Anemia: A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.Hemoglobin C Disease: 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.Genes: 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.Hemoglobin SC Disease: 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.Melanesia: 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)Integrin alpha2beta1: 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.Receptors, Adrenergic, beta-2: 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.Hematologic Diseases: Disorders of the blood and blood forming tissues.PaperPolymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Respiratory Function Tests: Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc.Blood Gas Analysis: Measurement of oxygen and carbon dioxide in the blood.Life Expectancy: Based on known statistical data, the number of years which any person of a given age may reasonably expected to live.Dictionaries, MedicalDictionaries as Topic: Lists of words, usually in alphabetical order, giving information about form, pronunciation, etymology, grammar, and meaning.Erythrocyte Transfusion: The transfer of erythrocytes from a donor to a recipient or reinfusion to the donor.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Blood Coagulation Disorders, Inherited: Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.Hydroxyurea: An antineoplastic agent that inhibits DNA synthesis through the inhibition of ribonucleoside diphosphate reductase.Periodicals as Topic: A publication issued at stated, more or less regular, intervals.Access to Information: Individual's rights to obtain and use information collected or generated by others.Journal Impact Factor: A quantitative measure of the frequency on average with which articles in a journal have been cited in a given period of time.Bibliometrics: The use of statistical methods in the analysis of a body of literature to reveal the historical development of subject fields and patterns of authorship, publication, and use. Formerly called statistical bibliography. (from The ALA Glossary of Library and Information Science, 1983)Information Centers: Facilities for collecting and organizing information. They may be specialized by subject field, type of source material, persons served, location, or type of services.National Health Planning Information Center (U.S.): A center in the HEALTH RESOURCES ADMINISTRATION Division of Planning Methods and Technology which provides access to current information on health planning and resources development.Hematology: A subspecialty of internal medicine concerned with morphology, physiology, and pathology of the blood and blood-forming tissues.Hemolysis: The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity.Medical Oncology: A subspecialty of internal medicine concerned with the study of neoplasms.Knowledge Bases: Collections of facts, assumptions, beliefs, and heuristics that are used in combination with databases to achieve desired results, such as a diagnosis, an interpretation, or a solution to a problem (From McGraw Hill Dictionary of Scientific and Technical Terms, 6th ed).Psychiatry: The medical science that deals with the origin, diagnosis, prevention, and treatment of mental disorders.Mental Disorders: Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function.Health Personnel: Men and women working in the provision of health services, whether as individual practitioners or employees of health institutions and programs, whether or not professionally trained, and whether or not subject to public regulation. (From A Discursive Dictionary of Health Care, 1976)Expert Systems: Computer programs based on knowledge developed from consultation with experts on a problem, and the processing and/or formalizing of this knowledge using these programs in such a manner that the problems may be solved.

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)

*Beta thalassemia

Alpha-thalassemia Advani, Pooja. "Beta Thalassemia Treatment & Management". Medscape. Retrieved 4 April 2017. "Beta thalassemia ... Beta thalassemiasthalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or ... Even if a child does not have beta thalassemia major, they can still be a carrier resulting in future offspring having beta ... These complications are mostly found in thalassemia major and intermedia patients. Individuals with beta thalassemia major ...

*Delta-beta thalassemia

... is considered rare. In terms of the pathophysiology of delta-beta thalassemia, one finds delta and beta ... as well Alpha thalassemia Beta thalassemia "Delta-beta-thalassemia". Orphanet. Orphanet. Retrieved 16 September 2016. "RBC ... In beta thalassemia, an increase in hemoglobin A2 results. However, the co-existence of a delta-beta thalassemia mutation will ... thereby obscuring the diagnosis of beta thalassemia trait The diagnosis of delta-beta thalassemia is done via hypochromic ...

*Sickle cell-beta thalassemia

... (Sickle cell-β thalassemia) is an inherited blood disorder. The disease may range in severity from ... disease Sickle cell-beta thalassemia is caused by inheritance of a sickle cell allele from one parent and a beta thalassemia ... "Newborn Screening Program - Sickle Cell Beta Thalassemia Disease". www.idph.state.il.us. Retrieved 2015-06-18. Ashley-Koch, A; ... "Newborn Screening Program - Sickle Cell Beta Thalassemia Disease". www.idph.state.il.us. Retrieved 2015-06-18. Ashley-Koch, A; ...

*HBB

Total or partial absence of HBB causes a genetic disease called beta thalassemia. Total loss called, thalassemia major or beta- ... Beta globin (also referred to as HBB, β-globin, haemoglobin beta, hemoglobin beta, or preferably haemoglobin subunit beta) is a ... "Alpha and beta thalassemia". American Family Physician. 80 (4): 339-44. PMID 19678601. "Beta thalassemia". Genetics Home ... Frischknecht H, Dutly F (2007). "A 65 bp duplication/insertion in exon II of the beta globin gene causing beta0-thalassemia". ...

*Anisopoikilocytosis

... beta thalassemia major, a form of microcytic anemia. In β thalassemia major the beta hemoglobin chain is completely absent, ... Galanello, Renzo; Origa, Raffaella (2010-05-21). "Beta-thalassemia". Orphanet Journal of Rare Diseases. 5: 11. doi:10.1186/1750 ...

*List of hematologic conditions

"Beta thalassemia". Genetics Home Reference. U.S. National Library of Medicine, NIH. March 13, 2011. Retrieved 21 March 2011. ... Hemoglobinopathies and Thalassemias "Sickle Cell Trait and Other Hemoglobinopathies and Diabetes: Important Information for ... Rivella, S. (May 2009). "Ineffective erythropoiesis and thalassemias". Curr. Opin. Hematol. National Center for Biotechnology ... "Alpha thalassemia". Genetics Home Reference. U.S. National Library of Medicine. February 27, 2011. Retrieved 3 March 2011. " ...

*Gideon Koren

Rund D, Rachmilewitz E (September 2005). "Beta-thalassemia". The New England Journal of Medicine. 353 (11): 1135-46. doi: ... August 1998). "Long-term safety and effectiveness of iron-chelation therapy with deferiprone for thalassemia major". The New ... progressive hepatic fibrosis during long-term therapy with deferiprone in subjects with transfusion-dependent beta-thalassemia ... double-blind trial of the effect of combined therapy with deferoxamine and deferiprone on myocardial iron in thalassemia major ...

*LentiGlobin BB305

Beta thalassemia is caused by mutations to or deletions of the HBB gene leading to reduced or absent synthesis of the beta ... LentiGlobin BB305 is an experimental treatment for beta thalassemia, a rare and potentially debilitating blood disorder. It is ... In early clinical trials several patients with beta thalassemia, who usually require frequent blood transfusions to treat their ... "Beta-thalassemia". Genetics in Medicine. 12: 61-76. doi:10.1097/GIM.0b013e3181cd68ed. Retrieved 14 February 2015. Negre O, et ...

*JRI-Poland

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, ...

*List of OMIM disorder codes

HBA2 Thalassemia, Hispanic gamma-delta-beta; 604131; LCRB Thalassemia-beta, dominant inclusion-body; 603902; HBB Thalassemias, ... alpha-; 604131; HBA1 Thalassemias, beta-; 604131; HBB Thanatophoric dysplasia, type I; 187600; FGFR3 Thiamine-responsive ... CYCS Thrombocytopenia with beta-thalassemia, X-linked; 314050; GATA1 Thrombocytopenia, congenital amegakaryocytic; 604498; MPL ... ACAT1 Alpha-thalassemia myelodysplasia syndrome, somatic; 300448; ATRX Alpha-thalassemia mental retardation syndrome; 301040; ...

*Compound heterozygosity

These disorders include sickle cell-beta thalassemia. In the case of sickle cell anemia, an individual with one allele for ... 1988). "Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United ... Ohno, Kousaku & Suzuki, Kunihiko (1988-12-05). "Multiple Abnormal beta-Hexosaminidase alpha-Chain mRNAs in a Compound- ... sickle cell disorders result from inheritance of the sickle cell gene in a compound heterozygous manner with other mutant beta ...

*Thalassemia

There are two main types, alpha thalassemia and beta thalassemia. The severity of alpha and beta thalassemia depends on how ... almost all patients with beta-thalassemia accumulate potentially fatal iron levels. Infection: People with thalassemia have an ... Beta thalassemias are due to mutations in the HBB gene on chromosome 11, also inherited in an autosomal, recessive fashion. The ... Just as with beta thalassemia, mutations that affect the ability of this gene to produce delta chains can occur.[citation ...

*Hemoglobin variants

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 ...

*Nunera

"Rheological properties of erythrocytes in heterozygous and homozygous beta thalassaemia". British Journal of Haematology. 43 (3 ...

*List of disorders included in newborn screening programs

1 in 25,000 Hb S/Beta-Thalassemia (Hb S/Th) > 1 in 50,000 Inborn errors of amino acid metabolism Tyrosinemia I (TYR I) < 1 in ... 1 in 100,000 Beta-ketothiolase deficiency (BKT) < 1 in 100,000 Propionic acidemia (PROP) > 1 in 75,000 Multiple-CoA carboxylase ... Beta-methyl crotonyl carboxylase deficiency Adenosylcobalamin synthesis defects Inborn errors of fatty acid metabolism Medium/ ...

*Hemoglobin E

"Hb E/beta-thalassaemia: a common & clinically diverse disorder". Indian J. Med. Res. 134: 522-31. PMC 3237252 . PMID 22089616. ... There is a variety of genotypes depending on the interaction of HbE and α-thalassemia. The presence of the α-thalassemia ... Hemoglobin E/β-thalassemia is a severe disease, and it still has no universal cure. It affects more than a million people in ... The reduced synthesis of β chain may cause β-thalassemia. Also, this hemoglobin variant has a weak union between α- and β- ...

*Health in the United Arab Emirates

Beta-thalassemia constitutes a major public health problem in the UAE. During 1989-2004, more than 850 patients have been ... in 2014 16,247 people were tested, 342 were Beta-thalassaemia carriers, 8 had sickle-cell anaemia, 205 were sickle-cell anaemia ... Surveys have shown that the UAE exhibits one of the highest carrier frequencies of β-thalassemia in the Persian Gulf region ... thalassaemia, and syphilis. The Health Authority - Abu Dhabi introduced premarital screening and counselling in 2011. 56,226 ...

*Hemoglobin, alpha 1

2006). "Screening of concurrent alpha-thalassaemia 1 in beta-thalassaemia carriers". Med. J. Malaysia. 61 (2): 217-20. PMID ... Ye BC, Zhang Z, Lei Z (2007). "Molecular analysis of alpha/beta-thalassemia in a southern Chinese population". Genet. Test. 11 ... GeneReviews/NCBI/NIH/UW entry on Alpha-Thalassemia OMIM etries on Alpha-Thalassemia. ... Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some ...

*TATA box

... "beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site". Proceedings of the ... "Beta-thalassemia due to a T----A mutation within the ATA box". Biochemical and Biophysical Research Communications. 153 (2): ... Zienolddiny S, Ryberg D, Maggini V, Skaug V, Canzian F, Haugen A (April 2004). "Polymorphisms of the interleukin-1 beta gene ... Some diseases that can be caused due to this insufficiency by specific gene transcription are: Thalassemia, lung cancer, ...

*Genetic studies on Arabs

Tadmouri, GO; Gulen, RI (November 2003). "Deniz: the electronic database for beta-thalassemia mutations in the Arab world". ... Some of the diseases are beta-thalassemia mutations, sickle-cell disease, congenital heart-disease, glucose-6-phosphate ... beta Thalassemia in all countries, g6dh deficiency all countries. Most of the genetic markers of Arabs genetic diseases are ... Some 906 pathologies are endemic to the Arab states, including thalassaemia, Tourette's syndrome, Wilson's disease, Charcot- ...

*HBG1

Chang JC, Kan YW (1979). "beta 0 thalassemia, a nonsense mutation in man". Proc. Natl. Acad. Sci. U.S.A. 76 (6): 2886-9. doi: ... Also, in cases of beta-thalassemia and related conditions, gamma chain production may be maintained, possibly as a mechanism to ... 1993). "Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia". Hemoglobin. 16 (6): 503-9. doi: ... The order of the genes in the beta-globin cluster is: 5' - epsilon - gamma-G - gamma-A - delta - beta - 3'. GRCh38: Ensembl ...

*Antiochian Greek Christians

2010) on Beta Thalassemia Heterogeneity in Lebanon found out that the thalassemia mutations in Lebanese Christians are similar ... "Genetic heterogeneity of Beta thalassemia in Lebanon reflects historic and recent population migration." Annals of human ...

*ERAF

2006). "Role of alpha-hemoglobin-stabilizing protein in normal erythropoiesis and beta-thalassemia". Ann. N. Y. Acad. Sci. 1054 ... 2004). "Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia". ... 2004). "Transfer of human alpha- to beta-hemoglobin via its chaperone protein: evidence for a new state". J. Biol. Chem. 279 ( ...

*HBE1

1988). "Beta-thalassemia due to a T----A mutation within the ATA box". Biochem. Biophys. Res. Commun. 153 (2): 741-7. doi: ... Chang JC, Kan YW (1979). "beta 0 thalassemia, a nonsense mutation in man". Proc. Natl. Acad. Sci. U.S.A. 76 (6): 2886-9. doi: ... The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5' - epsilon - gamma- ... Tuan D, Solomon W, Li Q, London IM (1985). "The "beta-like-globin" gene domain in human erythroid cells". Proc. Natl. Acad. Sci ...

*Yuet Wai Kan

... he was the first to discover a point-mutation causing human beta-thalassemia; with Golbus' help, he was the first to carry out ... Kan was the first to discover the gene deletion in human alpha-thalassemia; ... prenatal diagnosis (for a haemoglobinopathy). Kan is best known for his groundbreaking works in sickle cell and thalassemia. He ...

*Promoter (genetics)

Examples include: Asthma Beta thalassemia Rubinstein-Taybi syndrome Some promoters are called constitutive as they are active ... 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- ...
Liver iron concentration and liver impairment in relation to serum IGF-1 levels in thalassaemia major patients: A retrospective study
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 ...
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 ...
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), ...
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 ...
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 ...
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.
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
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- ...
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 ...
You need to be signed in to access email alerts. If you have an account log in with your user name and password. If you dont have an account you can just enter your email address in the email box below ...
Thank you for your interest in spreading the word about Haematologica.. NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.. ...
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.
TY - JOUR. T1 - A fast microelectronic array for screening and prenatal diagnosis of beta-thalassemia.. AU - Foglieni, Barbara. AU - Galbiati, Silvia. AU - Ferrari, Maurizio. AU - Cremonesi, Laura. PY - 2008. Y1 - 2008. N2 - The electronic microchip is a recently developed technology for the fast and reliable detection of known single-nucleotide polymorphisms (SNPs) in the genome. The DNA fragment to be analyzed is directed electrophoretically into the chip, and then it is hybridized with fluorescent-tagged DNA probes specific for the mutant and wild-type sequences. The presence or absence of the mutation is detected by the fluorescence signal. Electronic stringency provides quality control for the hybridization process and ensures that any bound pairs of DNA are truly complementary; the microchip can be easily customized by the end user, allowing for assembly of specific probes onto the microchip to perform individualized analyses. Assays for 10 frequent mutations in the beta-globin gene ...
Question - Medication for Beta-thalassemia. Ask a Doctor about diagnosis, treatment and medication for Thalassemia, Ask a Pediatrician
LGE-CMR can detect myocardial replacement fibrosis prior to overt LV remodeling in patients with laminopathy or Beckers muscular dystrophy (53,54). However, the assessment of diffuse interstitial fibrosis (Figure 2C) by emerging T1 mapping methods (Figures 1I and 1J) may allow differentiation of diseased from healthy myocardium, even in the absence of LGE (55), and holds considerable promise for early DCM diagnosis (56). In a study of LMNA mutation carriers, myocardial extracellular volume fraction, assessed by T1 mapping, was significantly higher in mutation carriers than in healthy control subjects, even in carriers who lacked any other clinical or LGE-CMR evidence of DCM phenotypic expression (57).. One further CMR tissue characterization technique, T2*, exemplifies the potential of early disease detection to prevent DCM, specifically in transfusion-dependent patients (e.g., with beta-thalassemia major) at risk of cardiac iron overload. T2* CMR permits accurate noninvasive monitoring of ...
MADRID - With some genetic sleight-of-hand, investigators hope to mimic a rare, naturally occurring mutation that protects some patients with beta-thalassemia o
Geron, spinal cord injury. ViaCyte, diabetes, US$10.1 million from CIRM. Blubird Bio, beta-thalassemia, US$9.3 million from CIRM. StemCells, Alzheimers US$20 million from CIRM; spinal cord injury US$20 million from CIRM, stocks rise 148% this year.. Osiris, graft-vs.-host disease (GvHD) in children, approved by Canadian regulator Health Canada. Pluristem Therapeutics, aplastic bone marrow, IPO $30 million, shares up 44%.. Cardio3 BioSciences therapy, heart failure, Phase III in Belgium permitted. TiGenix, cartilage repair in the knee, commercial production; autoimmune, Crohns disease Phase III; quarterly revenue up 152% as reported in Oct, 2012.. Advanced Cell Technology, degenerative eye condition, advancing clinical trials in the US and EU.. New Products to be released at next months ASCB annual conference in San Francisco: human mRNA-iPS cells, iPSCs with fluorescent markers, neural pregenitors derived from mRNA-iPSCs.. Tags: ACT, Advanced Cell Technology, Alzheimers, AMD, ...
Thank you for sharing this Drug Metabolism & Disposition article.. NOTE: We request your email address only to inform the recipient that it was you who recommended this article, and that it is not junk mail. We do not retain these email addresses.. ...
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. Anemia is also known as having a low blood count.
Abstract. Mutations within exon 3 of the beta-globin gene are relatively uncommon, and many of these mutations produce a dominant thalassemia- like phenotype.
Question - Regular blood tests showed cholesterol, normal treadmill, ECG, have rapid heart beads. Alarming?. Ask a Doctor about when and why Holter monitor is advised, Ask a Cardiologist
Who should have regular blood tests?,With the improvement of living standards, changes in diet, sit, eat less, has become the main public life and working style, casual betwee
MODEL RELEASED. Medical consulation. Doctors discussing the case of a thalassaemia patient. Blood test results are seen on the computer screen. Thalassaemia is an inherited condition where the red blood cells are fragile and easily damaged. Patients require regular blood transfusions, but this raises the levels of iron in the blood. The excess iron can be removed by the prescription of a chelating agent such as Desferal (deferoxamine) or Ferriprox (deferiprone). - Stock Image M541/0482
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited ...
Those at risk of AKI should be monitored with regular blood tests if they become unwell or start new medication. Its also useful to check how much urine youre passing. Any warning signs of AKI, such as vomiting or producing little urine, require immediate investigation for AKI and treatment. People who are dehydrated, or at risk of dehydration, may need to be given fluids via a drip.. Any medicine that seems to be making the problem worse, or directly damaging the kidneys needs to be stopped, at least temporarily.. The National Institute for Health and Care Excellence (NICE) has produced detailed guidelines on preventing, detecting and managing AKI. Read the NICE guidelines here.. ...
Those at risk of AKI should be monitored with regular blood tests if they become unwell or start new medication. Its also useful to check how much urine youre passing. Any warning signs of AKI, such as vomiting or producing little urine, require immediate investigation for AKI and treatment. People who are dehydrated, or at risk of dehydration, may need to be given fluids via a drip.. Any medicine that seems to be making the problem worse, or directly damaging the kidneys needs to be stopped, at least temporarily.. The National Institute for Health and Care Excellence (NICE) has produced detailed guidelines on preventing, detecting and managing AKI. Read the NICE guidelines here.. ...
Thus, I was secretly pleased that I am eligible and the actual blood extraction time was merely 5 minutes! Ultimately, my blood might not be enough to save any live (as no one can control the outcome) but it sure will increase the chance of survival for the needy. Ive pledged myself to be a regular blood donor from now onwards (at least twice a year), hence, my first blood but never my last! ...
You may need regular blood tests to keep track of how well you and your doctor are managing a condition such as diabetes or high cholesterol.
Went into the diabetes clinic to have blood drawn for my latest A1C and my regular blood work..I do NOT get same day results as many people do..My Blood work...
You may need regular blood tests to keep track of how well you and your doctor are managing a condition such as diabetes or high cholesterol.
You may need regular blood tests to keep track of how well you and your doctor are managing a condition such as diabetes or high cholesterol.
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?
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 ...
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.
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
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...
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
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 ...
PubMed Central Canada (PMC Canada) provides free access to a stable and permanent online digital archive of full-text, peer-reviewed health and life sciences research publications. It builds on PubMed Central (PMC), the U.S. National Institutes of Health (NIH) free digital archive of biomedical and life sciences journal literature and is a member of the broader PMC International (PMCI) network of e-repositories.
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 ...
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. ...
... 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.
Leading the Fight Against Thalassemia 1. Thalassemia is a genetic blood disorder 2. Support stem cell research to help find a cure.
The cost of treating a Thalassemic patient at the Chronic Care Center ranges usually from 4000$ to 37,000$ yearly. It averages 10,000 $ per year. This depends on the severity of the disease (Thalassemia Major or Thalassemia Intermedia) & the type of chelation therapy used). Patients are provided with all the basic medications & materials needed for the treatment ...
- Longer term data with investigational drug luspatercept show sustained increases in hemoglobin levels, reduced transfusion burden, and improved patient reported quality of life measures in patients with beta-thal...
Hello! I would like to know if my elevated RBC count is cause for concern or simply a result from my low MVC and MCH, probably due to having Thalassemia trait? My mom recently almost died from a massive MI so Im just concerned that the high count might be related to possible heart disease. Is the number actually high or just slightly elevated and nothing to worry about? I had labwork done because Ive been severely fatigued, dizzy, and experiencing heavy pressure in my head daily . Its been going on for 2 yrs now. TSH is normal. I have what appears to be a blood clot behind my knee but am not overly concerned because it seems to be in the shallow vein. Any info is very much appreciated as I do not have a doctor or insurance yet. Heres my info ...
Cooleys anemia, or thalassemia, is a genetic blood disorder that can be fatal if not treated early. Originally thought to affect mostly people of Mediterranean heritage, people from many other backgrounds carry the trait. So how can we find out if we carry the trait? Amy Celento of the Cooleys Anemia Foundation joins us and […]. ...
The purpose of this study is to investigate the critical role between promoter polymorphism of PON1 gene and its paraoxonase activity .....
Thalassemia is a genetic blood disorder that severely affects the patients bone marrow. Know more about types of Thalassemia, symptoms and cure for Thalassemia from our experts.
Doctors help you with trusted information about Hearing Loss in Thalassemia: Dr. Roberts on thalassemia deafness: A person can marry anyone they like. From a thalassemia perspective, and assuming your Alpha thal trait is in cis, your child has a 50/50 chance of being Alpha thal trait vs. Normal and a 50/50 chance of being beta thal trait vs. Normal. Given there is consideration of inheriting two distinct trait states, it would be prudent to sit with a genetic counselor to understand the implications clearly.
If you can have intensive induction chemotherapy, youll usually be given a combination of chemotherapy medication at a high dose to kill the cancerous cells in your blood and bone marrow.. This stage of treatment will be carried out in hospital or in a specialist centre, as youll need very close medical and nursing supervision.. Youll have regular blood transfusions because your blood wont contain enough healthy blood cells.. Youll also be vulnerable to infection, so its important that youre in a clean and stable environment where your health can be carefully monitored and any infection you have can be promptly treated. You may also be prescribed antibiotics to help prevent further infection.. Depending on how well you respond to treatment, the induction phase can last from four weeks to a couple of months. You may be able to leave hospital and receive treatment on an outpatient basis if your symptoms improve.. For intensive treatment, the chemotherapy medications will be injected into a ...
The case study method of teaching applied to college science teaching, from The National Center for Case Study Teaching in Science
UCL Discovery is UCLs open access repository, showcasing and providing access to UCL research outputs from all UCL disciplines.
A list of words that start with Th in the enable censored word list. thack thacked thacking thacks thae thairm thairms thalami thalamic thalamus thalassaemia thalassaemias thalassemia thalassemias thalassemic thalassemics thalassic thalassocracies thalassocracy thalassocrat etc.
Haemoglobin synthesis was studied in fetal blood samples obtained at 17 to 20 weeks gestation in 22 women at risk of carrying a fetus with homozygous beta-thalassaemia. A presumptive diagnosis of homozygous beta-thalassaemia was made in four cases, and the pregnancy was terminated. An inconclusive answer was obtained in one case, and the patient also chose to have her pregnancy terminated. Two fetuses were lost as a result of the procedure. Of the remaining 15 pregnancies, 13 proceeded to term and two to 36 weeks; in each case a normal infant or one heterozygous for beta-thalassaemia was delivered. Current efforts should be directed towards improving the blood sampling technology so that fetal blood sampling can be used widely in those countries where thalassaemia is a major problem. ...
Thalassemia Minor - People with this disorder dont actually have any symptoms. However, they act as the carriers of this disorder to next generation. With the lack of visibility of any symptoms, it is not possible to identify this disorder. It makes important for us to get tested if any of the family members or relatives have this disorder. ...
OBJECTIVE: To determine the major endocrine complications present in patients of Thalassemia major presenting to a tertiary care center in Karachi, Pakistan. METHODS: Records of all thallasemia major patients at a Haematology Department in a tertiary care hospital of Karachi were retrospectively reviewed from May to August 2009 with specific focus on endocrine data and investigations. The patients data was recorded in a questionnaire and analyzed using SPSS v.17, frequencies and percentages along with corresponding 95% confidence interval were computed. RESULTS: Our data revealed that a significantly small percentage of those under care received regular endocrine follow-up. Male hypo-gonadal abnormalities had the highest probability; 100% of the tested patients had decreased levels of testosterone, while 95.2% had raised serum creatinine levels. Parathyroid dysfunction was noted in 40% of the patients. Of those screened 29.4% had blood glucose levels in the diabetic range and 11.8% of the tested
Sickle beta plus thalassemia - Do beta thalassemia and sickle cell anemia always reduce life expectancy? Not if just 1 trait. Having either beta thalassemia trait or sickle cell trait is a mild condition and should not cause symptoms to the point of making a person frequently ill nor shortening life expectancy. Having beta thalassemia major or sickle cell disease, or both sickle cell trait and beta thalassemia trait, usually causes severe enough chronic disease symptoms to shorten lifespan an uncertain amount.
Adlette C. Inati, MD Head, Division of Pediatric Hematology-Oncology Medical Director Childrens Center for Cancer and Blood Diseases Rafik Hariri University Hospital Beirut, Lebanon. Noncompliance with Iron Chelation Therapy in an Adolescent with Thalassaemia Major. Background Information....
An inevitable complication of blood transfusions is iron overload. Assessment of iron overload by serum ferritin is widely used, relatively easy to perform and most acceptable, but ferritin fluctuates with infection and inflammation. Therefore, serial measurements and trend of serum ferritin values should be considered.. Assessment of liver iron concentration (LIC) by liver biopsy is invasive and cannot be performed repeatedly. Superconducting Quantum Interference Device (SQUID) measures LIC accurately. There are only few SQUID machines available worldwide as it is an expensive equipment to purchase and maintain.. Recently, magnetic resonance imaging (MRI) using T2* and R2* relaxation parameters has been used to quantitatively assess iron overload in liver and heart. Cardiac T2* value ,20 milliseconds and liver T2* value, 6.3 milliseconds indicate iron overload.. ...
BACKGROUND: Thalassaemia major is a genetic disease characterised by a reduced ability to produce haemoglobin. Management of the resulting anaemia is through transfusions of red blood cells. Repeated transfusions result in excessive accumulation of iron in the body (iron overload), removal of which is achieved through iron chelation therapy. A commonly used iron chelator, deferiprone, has been found to be pharmacologically efficacious. However, important questions exist about the efficacy and safety of deferiprone compared to another iron chelator, desferrioxamine. OBJECTIVES: To summarise data from trials on the clinical efficacy and safety of deferiprone and to compare the clinical efficacy and safety of deferiprone for thalassaemia with desferrioxamine. SEARCH STRATEGY: We searched the Groups Haemoglobinopathies Trials Register, MEDLINE, EMBASE, Biological Abstracts, ZETOC, Current Controlled Trials and bibliographies of relevant publications. We contacted the manufacturers of deferiprone and
Our sickle cell disease and hemoglobinopathies program is part of the Manhattan Comprehensive Sickle Cell Center. This is an NIH-funded program that brings together in the same institution clinical and basic research projects along with clinical and psychosocial services to serve the patients from our community better. We have a team of dedicated physicians, nurses, and social workers who specialize in sickle cell disease, providing a comprehensive approach to the management of this disease and helping the patients deal with its ravishing effects on their daily lives.. A large number of our patients participate in cutting-edge clinical trials that investigate the use of agents that stimulate fetal hemoglobin (e.g., butyrate and hydroxyurea) in the treatment of sickle cell disease and b-thalassemia. We also have several laboratory-based research projects on sickle cell disease. One of these projects is focused on the investigation of the role of adhesion in the pathophysiology of sickle cell ...
Hemoglobin F (Hb F) is the dominant hemoglobin at birth but is gradually replaced by adult hemoglobin (Hb A) during the year after birth (normal value ≤1% of total hemoglobin after age 2). Increased Hb F levels may continue after the neonatal period and into adulthood for various reasons. Genetic causes include deletional and nondeletional forms of hereditary persistence of fetal hemoglobin (HPFH) and delta-beta thalassemia mutations. Over 100 mutations have been described in the gamma genes and, if detectable, the protein expression will vary over time according to the overall Hb F expression. Gamma globin mutations can manifest either as a quantitative (gamma thalassemia or nondeletional HPFH) or a qualitative (gamma variant) abnormality. Nondeletional HPFH mutations frequently modulate the expected severity of sickling disorders due to the inhibitory properties of Hb F on sickle formation. Many gamma chain variants are benign, although some, such as unstable, high- and low-oxygen affinity, ...

Medical Dictionary Definitions A - Z List - «T»Medical Dictionary Definitions A - Z List - «T»

Thalassemia minor Thalassemia minor: Also called thalassemia trait, thalassemia minor is the carrier state for beta thalassemia ... Thalassemia, beta Thalassemia, beta: Also known as thalassemia major .The clinical picture of this important type of anemia was ... Thalassemia major Thalassemia major: The dire disease also known as beta thalassemia. The clinical picture of this form of ... Thalassemia, alpha Thalassemia, alpha: A blood disorder, thalassemia is not one disease but rather a group of disorders that ...
more infohttp://drugster.info/medic/letter/T/page/17

Beta ThalassemiaBeta Thalassemia

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

Thalassemia | Beta Thalassemia | MedlinePlusThalassemia | Beta Thalassemia | MedlinePlus

Thalassemias are inherited blood disorders. They affect your ability to make hemoglobin. This can cause anemia. Learn about the ... Alpha Thalassemia (For Parents) (Nemours Foundation) Also in Spanish * Beta Thalassemia (For Parents) (Nemours Foundation) Also ... Genetics Home Reference: beta thalassemia (National Library of Medicine) * What Is Thalassemia Trait? (Cooleys Anemia ... ClinicalTrials.gov: beta-Thalassemia (National Institutes of Health) * ClinicalTrials.gov: Thalassemia (National Institutes of ...
more infohttps://medlineplus.gov/thalassemia.html

Blood Transfusions for Beta ThalassemiaBlood Transfusions for Beta Thalassemia

Blood transfusions are part of the treatment routine for some people with a blood disorder called beta thalassemia. Learn when ... Blood Transfusions for Beta Thalassemia. Blood transfusions could be a regular thing if you or your child has a blood disorder ... Beta thalassemia lowers your hemoglobin -- a protein that helps red blood cells carry oxygen to your organs and tissues -- and ... The type of beta thalassemia you or your child has will help your doctor decide if you need blood transfusions. ...
more infohttps://www.webmd.com/a-to-z-guides/beta-thal-19/beta-thalassemia-blood-transfusions

The Beta Thalassemia Trait: Symptoms, Treatment & DiagnosisThe Beta Thalassemia Trait: Symptoms, Treatment & Diagnosis

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. ...
more infohttps://www.medicinenet.com/beta_thalassemia/article.htm

Beta Thalassemia | Johns Hopkins Medicine Health LibraryBeta Thalassemia | Johns Hopkins Medicine Health Library

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

Beta ThalassemiaBeta Thalassemia

... 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 ...
more infohttps://www.brennerchildrens.org/KidsHealth/Parents/Cancer-Center/Cancer-Basics/Beta-Thalassemia.htm?__t=488

Breakthrough Treatments for Beta-Thalassemia MajorBreakthrough Treatments for Beta-Thalassemia Major

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

Beta Thalassemia (for Parents) - Hospital Sant Joan de DeuBeta Thalassemia (for Parents) - Hospital Sant Joan de Deu

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 ...
more infohttps://kidshealth.org/HospitalSantJoandeDeu/en/parents/beta-thalassemia.html

Intracranial Hematopoiesis in Beta Thalassemia: A Case Series | SpringerLinkIntracranial Hematopoiesis in Beta Thalassemia: A Case Series | SpringerLink

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

Alpha and Beta Thalassemia - American Family PhysicianAlpha and Beta Thalassemia - American Family Physician

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 ...
more infohttps://www.aafp.org/afp/2009/0815/p339.html

Molecular Diagnosis Kits for Beta Thalassemia | SBIR.govMolecular Diagnosis Kits for Beta Thalassemia | SBIR.gov

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 ...
more infohttps://www.sbir.gov/sbirsearch/detail/88099

Beta Thalassemia (for Parents)Beta Thalassemia (for Parents)

Beta thalassemia 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 ...
more infohttp://www.teenhealth.org/en/parents/beta-thalassemia.html?WT.ac=ctg

Beta-thalassemia: What is it?Beta-thalassemia: What is it?

... beta-thalassemia, thalassemia, autosomal recessive, genetic disorder ...
more infohttp://ygyh.org/thal/whatisit.htm

Delta-Beta-Thalassemia - ONADelta-Beta-Thalassemia - ONA

... both are elevated in beta-thalassemia but not in alpha-thalassemia. However, in delta-beta-thalassemia, hemoglobin F will be ... Hemoglobin Analysis in beta-Thalassemias. Classification. Hemoglobin A. Hemoglobin A2. Hemoglobin F. Cell Distribution of ... In delta-beta-thalassemia, there will be a mild alpha chain imbalance with an alpha to non-alpha ratio of about 1.5, whereas ... Delta-beta-thalassemia should be suspected in a patient with microcytic red blood cells and erythrocytosis but no significant ...
more infohttp://www.oncologynurseadvisor.com/labmed/delta-beta-thalassemia/article/612115/

How does alpha thalassemia affect the severity of beta thalassemia?How does alpha thalassemia affect the severity of beta thalassemia?

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

Beta Thalassemia Treatment & Management: Approach Considerations, Surgical Treatment, Investigational TherapyBeta Thalassemia Treatment & Management: Approach Considerations, Surgical Treatment, Investigational Therapy

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. ...
more infohttps://emedicine.medscape.com/article/206490-treatment

Beta-thalassemia and pulmonary function | HaematologicaBeta-thalassemia and pulmonary function | Haematologica

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 ...
more infohttp://www.haematologica.org/content/84/9/804

Celgenes luspatercept aces phase 3 beta thalassemia trial | FierceBiotechCelgene's luspatercept aces phase 3 beta thalassemia trial | FierceBiotech

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

Beta thalassemia - The Clinical AdvisorBeta thalassemia - The Clinical Advisor

C. History Part 3: Competing diagnoses that can mimic beta thalassemia. * D. Physical Examination Findings. * Beta thalassemia ... 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 ... Are you sure your patient has beta thalassemia?. Thalassemia is diagnosed with hemoglobin electrophoresis. In βo thalassemia, ...
more infohttps://www.clinicaladvisor.com/hospital-medicine/beta-thalassemia/article/601519/

Pregnancy and beta-thalassemia: an Italian multicenter experience.Pregnancy and beta-thalassemia: an Italian multicenter experience.

Recent advances in the management of thalassemia have significantly improved life expectancy and quality of life of patients ... Pregnancy was safe in most women with thalassemia major or intermedia. However, women with thalassemia intermedia who had never ... iron overload and chelation in 46 women with thalassemia major (58 pregnancies) and in 11 women with thalassemia intermedia (17 ... RESULTS: Among the women with thalassemia major, 91% of the pregnancies resulted in successful delivery of 45 singleton live- ...
more infohttp://www.biomedsearch.com/nih/Pregnancy-beta-thalassemia-Italian-multicenter/19903676.html

Thalassemias, Especially The Cooleys Anemia (Beta Thalassemia Major) | HubPagesThalassemias, Especially The Cooley's Anemia (Beta Thalassemia Major) | HubPages

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

Beta thalassemia - WikipediaBeta thalassemia - Wikipedia

Alpha-thalassemia Advani, Pooja. "Beta Thalassemia Treatment & Management". Medscape. Retrieved 4 April 2017. "Beta thalassemia ... Beta thalassemiasthalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or ... Even if a child does not have beta thalassemia major, they can still be a carrier resulting in future offspring having beta ... These complications are mostly found in thalassemia major and intermedia patients. Individuals with beta thalassemia major ...
more infohttps://en.wikipedia.org/wiki/Beta_thalassemia

Beta Thalassemia - AHealthyMe - Blue Cross Blue Shield of MassachusettsBeta Thalassemia - AHealthyMe - Blue Cross Blue Shield of Massachusetts

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. It affects how hemoglobin is made. ... Beta Thalassemia. What is beta thalassemia?. Thalassemia (thal-uh-SEE-mee-uh) is a blood disorder that is inherited. This means ... What are the complications of beta thalassemia?. Complications of beta thalassemia vary depending on the type:. *Thalassemia ...
more infohttp://www.ahealthyme.com/Library/DiseasesConditions/Adult/85,P00081

Fetal Gene Editing with Synthetic Nucleotides Cures Beta-Thalassemia in MiceFetal Gene Editing with Synthetic Nucleotides Cures Beta-Thalassemia in Mice

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- ...
more infohttps://www.genengnews.com/topics/omics/fetal-gene-editing-with-synthetic-nucleotides-cures-beta-thalassemia-in-mice/
  • We studied gall bladder contractility in 61 children with beta-thalassaemia who were asymptomatic for gall bladder disease and 51 sex- and age-matched controls in Cairo, Egypt, using real-time ultrasonography. (who.int)
  • Abstract We will develop a simple PCR method to diagnosis alpha-thalassemias. (sbir.gov)
  • Juvenile chronic myelogenous leukemia has high haemoglobin F like beta thalassemia but several laboratory findings like absence of elevated haemoglobin A 2 level, decrease in carbonic anhydrase, primitive cells in the marrow favors the diagnosis of juvenile chronic myelogenous leukemia. (clinicaladvisor.com)
  • Luspatercept was tipped to drive improved outcomes by targeting TGF-beta proteins involved in the maturation of red blood cells. (fiercebiotech.com)
  • The kit will be usedfor screening potential carriers with alpha-thalassemia in the United States, Southeast Asia andSouthern China. (sbir.gov)
  • Amid A, Haghi-Ashtiani B, Kirby-Allen M, Haghi-Ashtiani MT. Screening for thalassemia carriers in populations with a high rate of iron deficiency: revisiting the applicability of the Mentzer Index and the effect of iron deficiency on Hb A2 levels. (medscape.com)
  • Southern blot analysis with appropriate restriction digestion of genomic DNA and probes to the delta chain gene and the beta chain gene on chromosome 11 will demonstrate a deletion that encompasses the delta chain and the beta chain. (oncologynurseadvisor.com)
  • Alpha thalassemia occurs most often in persons of African and Southeast Asian descent, and beta thalassemia is most common in persons of Mediterranean, African, and Southeast Asian descent. (aafp.org)
  • The main cardiac abnormalities seen to have resulted from thalassemia and iron overload include left ventricular systolic and diastolic dysfunction, pulmonary hypertension, valveulopathies, arrhythmias, and pericarditis. (wikipedia.org)