Premium
Occurrence of G γ Hb F in Greek HPFH: Analysis of Heterozygotes and Compound Heterozygotes with β Thalassaemia
Author(s) -
Clegg J. B.,
MetaxatouMavromati A.,
Kattamis C.,
Sofroniadou K.,
Wood W. G.,
Weatherall D. J.
Publication year - 1979
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1979.tb03785.x
Subject(s) - heterozygote advantage , compound heterozygosity , hemoglobinopathy , thalassemia , hemoglobin a2 , genetics , medicine , hemolytic anemia , biology , genotype , gene , mutation
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 G γ 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 G γ, A γ 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.