Studies on hemoglobin E. I. The clinical, hematologic, and genetic characteristics of the hemoglobin E syndromes.

Abstract

Abstract The clinical, hematologic, and genetic manifestations of the Hgb E syndromes are described. Hgb E trait, the heterozygous form of Hgb E, is unaccompanied by any disability. Thalassemia-Hgb E disease simulates thalassemia major in almost every respect and results from the mating of a carrier of the gene for thalassemia with an individual who harbors the gene for Hgb E. Homozygous Hgb E disease is manifest as a mild microcytic, normochromic anemia, characterized by large numbers of target cells. Theoretical considerations relative to the genetic background of thalassemia-Hgb E disease and the thalassemia syndromes are discussed.