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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
thal·as·se·mi·a mi·nor
[MIM*141800-142310 passim] the heterozygous state of a thalassemia gene or a hemoglobin Lepore gene; usually asymptomatic and quite variable hematologically, with target cells, mild hypochromic microcytosis, and often slightly reduced hemoglobin level with slightly increased erythrocyte count; types of hemoglobin are variable and depend on the gene involved.
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