The Globin Gene Mutations

Abstract

The structural hemoglobin variants, thalassemias, and syndromes of hereditary persistence of fetal hemoglobin synthesis produce a remarkable diversity of clinical manifestations. The principal hematologic and clinical features of these conditions are considered briefly in the following sections, with emphasis on the mode of expression of their mutant genes. These disorders have been reviewed extensively in several recent texts (Lehmann and Huntsman, 1974; Serjeant, 1974; Schwartz, 1980; Weatherall and Clegg, 1981).

Strange is it that our bloods, Of colour, weight and heat pour’d altogether Would quite confound distinction, yet stand off In differences so mighty.

All’s Well That Ends Well