beta-thalassemia


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Related to beta-thalassemia: Alpha-thalassemia, Thalassemia minor

thalassemia

 [thal″ah-se´me-ah]
a heterogeneous group of hereditary hemolytic anemias marked by a decreased rate of synthesis of one or more hemoglobin polypeptide chains, classified according to the chain involved (α, β, δ); the two major categories are α- and β-thalassemia.
α-thalassemia (alpha-thalassemia) that caused by diminished synthesis of alpha chains of hemoglobin. The homozygous form is incompatible with life, the stillborn infant displaying severe hydrops fetalis. The heterozygous form may be asymptomatic or marked by mild anemia.
β-thalassemia (beta-thalassemia) that caused by diminished synthesis of beta chains of hemoglobin. The homozygous form is called t. major and the heterozygous form is called t. minor.
thalassemia ma´jor the homozygous form of β-thalassemia, in which hemoglobin A is completely absent; it appears in the newborn period and is marked by hemolytic, hypochromic, microcytic anemia; hepatosplenomegaly; skeletal deformation; mongoloid facies; and cardiac enlargement.
thalassemia mi´nor the heterozygous form of β-thalassemia; it is usually asymptomatic, but there may be mild anemia.
sickle cell–thalassemia a hereditary anemia involving simultaneous heterozygosity for hemoglobin S and thalassemia.

β-thalassemia

Thalassemia major Hematology A hemoglobinopathy caused by a defect in the synthesis of Hb β chain Clinical Pallor, fatigability, FTT, fever due to infections, diarrhea, bone deformities, hepatosplenomegaly Management Transfusions, but iron overload can damage the heart, liver, and endocrine systems, ergo iron chelation–early use of deferiprone, deferoxamine ↓ transfusion-related iron overload and may protect against DM, cardiac disease, early death

be·ta-thal·as·se·mi·a

(bātă thală-sēmē-ă)
Thalassemia due to one of two or more genes that depress (partially or completely) synthesis of beta-globin chains by the chromosome bearing the abnormal gene.
References in periodicals archive ?
In hematology, the Company and its global collaboration partner, Celgene, are developing luspatercept for the treatment of chronic anemia in myelodysplastic syndromes, beta-thalassemia, and myelofibrosis.
Effects of hormonal replacement therapy on bone metabolism in young adults with beta-thalassemia major.
The UMass study used a similar gene editing protocol to target forms of beta-thalassemia that involve splicing mutations--errors in bits of DNA near the beta-globin gene that change how the gene is read out to assemble beta-globin protein.
A Number of Cases in Iran Presenting with Coinheritance of Hemoglobin-H Disease and Beta-Thalassemia Minor.
Premarital screening of beta-thalassemia trait in the province of Denizli, Turkey.
According to the company, PTG-300is an injectable hepcidin mimetic that is currently in clinical development for the potential treatment of beta-thalassemia, a rare disease characterised by chronic anaemia and iron overload.
The company intends to initiate a global clinical trial with PTG-300 in patients with beta-thalassemia following our upcoming meetings with the U.S.
Canatan et al., "beta-Thalassemia Distribution in the Old World: an Ancient Disease Seen from a Historical Standpoint," Mediterranean Journal of Hematology and Infectious Diseases, vol.
Mediterranean, African and South Asian areas are more affected by beta-thalassemia. Approximately, Eastern Mediterranean, Europe, Western Pacific, Sub-Saharan Africa, Southeast Asia and America's people are affected by a gene mutation at 2-18, 0-19, 0-13, 0-12, 0-11 and 0-3%, respectively (22,23).
A 12-year preventive program for beta-thalassemia in Northern Sardinia.