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%).

A case and review of Haemoglobin SE in the paediatric population.

“…Hemoglobin S (HbS) and Hemoglobin E (HbE) are common hemoglobin variants. HbS is prevalent in Africa, India and the Middle East while HbE is common in South East Asia [1][2][3][4][5][6] .…”

Alpha-thalassaemia trait as a cause of unexplained microcytosis in a South African population

“…The heterozygous and homozygous states for Hb E are benign conditions clinically, but individuals often have red cell microcytosis and/or hypochromia. [4] The β E gene results in inefficient synthesis, as borne out by studies that show decreased β E globin chain synthesis, [5] and there is also evidence that the β E messenger RNA is relatively unstable. [6] It therefore appears that the β E gene leads to a mild form of β-thalassaemia.…”