Summary
A family has been observed in which a gene for heterocellular herediatry persistence of fetal hemoglobin (HPFH), probably identical to that previously described as Swiss type HPFH, has been inherited together with β-thalassemia. The interaction of these two genes resulted in β-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-β thalassemia compound heterozygotes and in the heterozygous β-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 γβδ complex.
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Soummer, A.M., Testa, U., Dujardin, P. et al. Genetic regulation of γ gene expression: Study of the interaction of β-thalassemia with heterocellular HPFH. Hum Genet 57, 371–375 (1981). https://doi.org/10.1007/BF00281687
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DOI: https://doi.org/10.1007/BF00281687