COMPARISON OF THE HOMOZYGOUS STATES FOR G-GAMMA AND G-GAMMA-A-GAMMA DELTA-BETA THALASSEMIA

Summary. One Arabic and two Indian patients with thalassaemia intermedia produce only Hb F of the Gγ type. Haemoglobin synthesis studies and genetic analysis indicate that they are homozygous for Gγδβ thalassaemia. The findings in these patients and their heterozygous relatives are compared with those in an individual homozygous for GγAγδβ thalassaemia. From this analysis, and from previously reported data on GγAγδβ thalassaemia, the phenotypic expression of the two varieties of δβ thalassaemia is defined. The relationship between the clinical expression and molecular pathology of these forms of δβ thalassaemia is discussed. Copyright © 1979, Wiley Blackwell. All rights reserved