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.

beta-thalassemia

an anemia that is caused by diminished synthesis of beta chains of hemoglobin. The homozygous form is known as thalassemia major and the heterozygous form is known as thalassemia minor. See 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

beta-thalassemia (bāˑ·t-tha·ls·sēˑ·mē·),

n type of anemia occurring as a result of reduced synthesis of the beta chains of hemoglobin.

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 ?
for hemoglobinopathies, such as sickle cell disease and beta-thalassemia, and with Shire International GmbH to develop therapeutics for Huntington's disease.
Beta-thalassemia trait prevalence of Turkey and other Middle Eastern countries were compared and showed in figure II.
These include sickle cell anemia (3,22) and beta-thalassemia, (18,23) as well as the anemias associated with cystic fibrosis (24) and Mediterranean [G.
Rapid and simultaneous typing of haemoglobin S, haemoglobin C and seven Mediterranean beta-thalassemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily.
Hypochromia and microcytosis characterize all forms of beta-thalassemia.
That ruled out beta-thalassemia, but ADA deficiency fit the description perfectly.
Beta-thalassemia is a blood disorder caused by a mutation in the HBB gene and characterized by reduced production of the protein hemoglobin, which affects the blood's ability to transport oxygen and is associated with life-threatening complications such as severe anemia and organ damage.
Materials and Methods: Conventional echocardiographic analysis, tissue velocity imaging, and strain/strain rate imaging of the left ventricle were evaluated in 48 children with beta-thalassemia major (19 girls, 29 boys; 8.
based clinical trial in gene therapy for beta-thalassemia has begun treating trial participants and the Cooley's Anemia Foundation (CAF) congratulates the researchers involved in the project on the reaching this important stage.