Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The disturbed balance of globin chain synthesis is a major factor in the pathophysiology of the thalassaemic disorders; this concept is strongly supported by the study of a patient displaying an extreme but symmetrical deficit of both major types of chains alpha and beta. The patient had a mild clinical picture but presented a striking hypochromia (MCH 10 pg) with compensatory erythrocytosis (RBC 10(12)/l.). Study of the propositus and his family by haematological, biochemical and biosynthetic techniques indicates that the patient carries two alpha- and two beta-thalassaemia genes resulting in balanced globin chain synthesis; in addition, several members of the family carry two or three abnormal genes. During observation a change in the haematological pattern occurred with a shift towards more intensive beta-chain and away from gamma-chaim synthesis; this appeared with be associated with improvement of his anaemia through more effective erythropoiesis.
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PMID:A unique thalassaemic syndrome: homozygous alpha-thalassaemia + homozygous beta-thalassaemia. 69 15