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Globin Chain Synthesis in the Greek Type ( A γ) of Hereditary Persistence of Fetal Haemoglobin
Author(s) -
Sofroniadou K.,
Wood W. G.,
Nute P. E.,
Stamatoyannopoulos G.
Publication year - 1975
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.1365-2141.1975.tb01807.x
Subject(s) - heterozygote advantage , fetus , beta thalassaemia , gene , genetics , beta (programming language) , hemoglobinopathy , biology , fetal hemoglobin , compound heterozygosity , globin , microbiology and biotechnology , genotype , thalassemia , phenotype , hemolytic anemia , immunology , pregnancy , computer science , programming language
S ummary . Globin chain synthesis was studied in a family with both the Greek ( A γ) type of hereditary persistence of fetal haemoglobin and β thalassaemia. The ratio of α/(γ+β+δ) chain synthesis in the hereditary persistence of fetal haemoglobin (HPFH) heterozygotes was 0.97 while in the HPFHβ‐thalassaemia heterozygote it was 2.14. However, calculation of the amounts of haemoglobin synthesized per cell suggests that in the HPFHβ‐thalassaemia heterozygote, the β‐ and A γ‐chain genes in cis to the HPFH determinant are unable to compensate for the deficiency of chains imposed by the β‐thalassaemia gene in trans and that the increased synthesis of Hb F is directed by the y‐chain genes located on the β‐thalassaemia chromosome. The data suggest that synthesis of β and A γ chains in the Greek HPFH is fixed at a ‘preset’ level and indicate that the defect might be due to an abnormality in the rate of transcription of the closely linked β‐, δ‐ and γ‐chain genes.