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.
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