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  • Title: Haemoglobin D and D thalassaemia. A family report, comprising 18 members.
    Author: Tsistrakis GA, Scampardonis GJ, Clonizakis JP, Concouris LL.
    Journal: Acta Haematol; 1975; 54(3):172-9. PubMed ID: 809961.
    Abstract:
    On the occasion of a double heterozygote case of D haemoglobinopathy/beta-thalassaemia (D thalassaemia) from Epirus (Greece), a family study was performed. It comprised 18 members, belonging to 3 generations, and revealed the presence of an additional D thalassaemia case, 4 D haemoglobinopathy heterozygotes, 5 beta-thalassaemia heterozygotes and 7 normal persons. The D thalassaemia cases were initially considered as Hb D homozygotes, according to their electrophoretic phenotype; the family study, however, showed the true nature of their stigmata. These patients presented with mild jaundice, splenomegaly and moderate anaemia, while the Hb D heterozygotes was asymptomatic.
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