- inherited) disorders all of which involve underproduction of hemoglobin, the indispensable molecule in red blood cells that carries oxygen.
The globin part of normal adult hemoglobin is made up of 2 alpha and 2 beta polypeptide chains. In beta thalassemia, there is a mutation (change) in both beta globin chains leading to underproduction (or absence) of beta chains, underproduction of hemoglobin, and profound anemia. The gene for beta thalassemia is relatively frequent in people of Mediterranean origin (for example, from Italy and Greece). Children with this disease inherit one gene for it from each parent (and so are said to be homozygous for beta thalassemia). The parents are carriers (heterozygotes) with just one thalassemia gene, are said to have thalassemia minor, and are essentially normal. Their children affected with beta thalassemia seem entirely normal at birth (because at birth we still have predominantly fetal hemoglobin which does not contain beta chains) but the anemia emerges in the first few months of life and becomes progressively more severe leading to pallor and easy fatiguability, failure to thrive (grow), bouts of fever (due to infections) and diarrhea. Treatment based on blood transfusions is helpful but not curative. Gene therapy will, it is hoped, be applicable to this disease.
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* * *the homozygous form of β-thalassemia, a severe condition evident from the neonatal period with complete absence of hemoglobin A; characteristics include hemolytic, hypochromic, microcytic anemia, pronounced hepatosplenomegaly, skeletal deformation, mongoloid facies, and cardiac enlargement. Called also Cooley anemia or disease.
Medical dictionary. 2011.
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thalassemia major — noun a fatal form of homozygous thalassemia (inherited from both parents) in which there is no hemoglobin; skeletal deformations; heart and spleen and liver enlarged • Syn: ↑Cooley s anemia, ↑Cooley s anaemia, ↑thalassaemia major • Hypernyms:… … Useful english dictionary
thalassemia major — noun Etymology: New Latin, greater thalassemia Date: 1944 Cooley s anemia … New Collegiate Dictionary
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thalassemia — /thal euh see mee euh/, n. Pathol. a hereditary form of anemia, occurring chiefly in people of Mediterranean origin, marked by the abnormal synthesis of hemoglobin and a consequent shortened life span of red blood cells. Also called Cooley s… … Universalium
Thalassemia, beta — Also known as thalassemia major .The clinical picture of this important type of anemia was first described in 1925 by the pediatrician Thomas Benton Cooley.. Other names for the disease are Cooleys anemia and Mediterranean anemia. The name… … Medical dictionary
thalassemia intermedia — β thalassemia whose clinical appearance is intermediate between thalassemia major and thalassemia minor … Medical dictionary
thalassemia — noun an inherited form of anemia caused by faulty synthesis of hemoglobin • Syn: ↑thalassaemia, ↑Mediterranean anemia, ↑Mediterranean anaemia • Hypernyms: ↑hypochromic anemia, ↑hypochromic anaemia, ↑monogenic disorder, ↑ … Useful english dictionary
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Beta-thalassemia — Classification and external resources ICD 10 D56.1 ICD 9 282.44 … Wikipedia