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- W2088890430 abstract "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 α and β. The patient had a mild clinical picture but presented a striking hypochromia (MCH 10 pg) with compensatory erythrocytosis (RBC 1012l.). Study of the propositus and his family by haematological, biochemical and biosynthetic techniques indicates that the patient carries two α- and two β-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 β-chain and away from γ-chain synthesis; this appeared with be associated with improvement of his anaemia through more effective erythropoiesis." @default.
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- W2088890430 date "1978-07-01" @default.
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- W2088890430 title "A Unique Thalassaemic Syndrome: Homozygous α-Thalassaemia + Homozygous β-Thalassaemia" @default.
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- W2088890430 doi "https://doi.org/10.1111/j.1365-2141.1978.tb01109.x" @default.
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