PMID: 6169619Jan 1, 1981Paper

Genetic regulation of gamma gene expression: study of the interaction of beta-thalassemia with heterocellular HPFH

Human Genetics
A M SoummerJ Rosa

Abstract

A family has been observed which a gene for heterocellular hereditary persistence of fetal hemoglobin (HPFH), probably identical to that previously described as Swiss type HPFH, has been inherited together with beta-thalassemia. The interaction of these two genes resulted in beta-thalassemia heterozygotes with unusually high levels of fetal hemoglobin (3.6-6.15), heterogeneously distributed. Globin synthesis studies showed a similar degree of chain imbalance in the heterocellular HPFH-beta thalassemia compound heterozygotes and in the heterozygous beta-thalassemia member of the family. On the basis of the pattern of genetic transmission of these two characters it can be concluded that the HPFH determinant does not behave as an allele of the gamma beta delta complex.

References

Jul 21, 1973·British Medical Journal·H H Knox-MacaulayM E Pembrey
Aug 1, 1972·Journal of Clinical Pathology·M E PembreyD J Weatherall
Dec 12, 1959·Nature·K BETKEI SCHLICHT

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Citations

Oct 1, 1994·British Journal of Haematology·D G EfremovT H Huisman
Jan 1, 1989·Annals of the New York Academy of Sciences·S H Boyer
Jan 1, 1985·Annals of the New York Academy of Sciences·D J WeatherallJ B Clegg
Sep 1, 1984·Scandinavian Journal of Haematology·F MorléJ Godet

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