title: Haemoglobin E variants: a clinical, haematological and biosynthetic study of 4 South African families.
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%).
mesh_terms: D000328:Adult; D004912:Erythrocytes / Q000032:analysis; D004913:Erythrocytes, Abnormal / Q000032:analysis; D005838:Genotype; D006446:Hemoglobin E / Q000235:genetics*; D006451:Hemoglobin, Sickle / Q000032:analysis; D006453:Hemoglobinopathies / Q000097:blood / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant
chemical_list: D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; D006446:Hemoglobin E