title: Occurrence of G gamma Hb F in Greek HPFH: analysis of heterozygotes and compound heterozygotes with beta thalassaemia.
abstract: 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 gamma CB3 peptides determined. In contrast to previous reports we have shown that the Hb F of the Greek HPFH heterozygotes contains significant amounts of G gamma 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 gamma, A gamma and (probably) beta and delta 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/beta thalassaemia compound heterozygotes indicate that the Greek HPFH determinant, while allowing an overall increase in gamma chain synthesis, is not the sole factor determining the absolute amount of Hb F production on a cellular basis.
mesh_terms: D000328:Adult; D000409:Alanine / Q000097:blood; D004909:Erythrocyte Indices; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis*; D005914:Globins / Q000096:biosynthesis; D005998:Glycine / Q000097:blood; D006115:Greece; D006441:Hemoglobin A / Q000378:metabolism; D006453:Hemoglobinopathies / Q000097:blood* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010446:Peptide Fragments; D013789:Thalassemia / Q000097:blood* / Q000235:genetics
chemical_list: D010446:Peptide Fragments; D005914:Globins; D006441:Hemoglobin A; D005319:Fetal Hemoglobin; D000409:Alanine; D005998:Glycine