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  • Title: Haemoglobin E variants: a clinical, haematological and biosynthetic study of 4 South African families.
    Author: Bird AR, Wood K, Leisegang F, Mathew CG, Ellis P, Hartley PS, Karabus CD.
    Journal: Acta Haematol; 1984; 72(2):135-7. PubMed ID: 6437117.
    Abstract:
    The clinical, haematological and biosynthetic features of subjects with Hb E variants are described. An association with red cell hypochromia and microcytosis was confirmed, although this was not invariable in Hb E trait. Imbalanced globin chain synthesis was found in the majority of Hb E carriers. A patient doubly heterozygous for Hb E and Hb S, a condition we have not previously seen reported, had a benign clinical course with minor haematological changes, despite a relatively large amount of Hb S (67%).
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