OCCURRENCE OF G-GAMMA HB-F IN GREEK HPFH - ANALYSIS OF HETEROZYGOTES AND COMPOUND HETEROZYGOTES WITH BETA/THALASSAEMIA

Summary. Haemoglobin F has been isolated from the red cells of individuals with the Greek form of hereditary persistence of fetal haemoglobin (HPFH), and the glycine/alanine composition of the γCB3 peptides determined. In contrast to previous reports we have shown that the Hb F of the Greek HPFH heterozygotes contains significant amounts of Gγ chains and circumstantial evidence indicates that these are the products of the same chromosome that carries the Greek HPFH determinant. Hence this chromosome must be directing the synthesis of Gγ, Aγ and (probably) β and δ chains, thus implying that the Greek form of HPFH does not result from a deletion involving the globin chain structural genes. Analysis of the levels and structure of Hb F from the Greek HPFH heterozygotes and from separated cell populations from the Greek HPFH/β thalassaemia compound heterozygotes indicate that the Greek HPFH determinant, while allowing an overall increase in γ chain synthesis, is not the sole factor determining the absolute amount of Hb F production on a cellular basis. Copyright © 1979, Wiley Blackwell. All rights reserved