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. 1983;2(6):921–925. doi: 10.1002/j.1460-2075.1983.tb01522.x

A gene controlling fetal hemoglobin expression in adults is not linked to the non-alpha globin cluster.

A M Gianni, M Bregni, M D Cappellini, G Fiorelli, R Taramelli, B Giglioni, P Comi, S Ottolenghi
PMCID: PMC555209  PMID: 6196196

Abstract

The possible linkage between a gene causing heterocellular hereditary persistence of fetal hemoglobin (HPFH) and human non-alpha globin loci has been studied in a large Sardinian family. In this family a homozygous beta o-thalassemic patient was found, with an unusually mild form of this disease, which was ascribed to the co-existence of a gene causing heterocellular HPFH. DNA polymorphisms in the non-alpha globin cluster were analyzed by restriction enzyme digestion with HincII, HindIII and BamHI and with epsilon-, gamma-and beta-globin probes; the pattern of inheritance of these polymorphisms indicates that the HPFH gene is transmitted with one beta o-thalassemic gene in a single instance, with the second beta o-thalassemic gene in three instances and with a normal beta-globin gene in two cases. These data indicate that this HPFH gene is not linked to the non-alpha globin gene cluster, in contrast to previous observations with different HPFH genes, and suggest that this gene might code for diffusible substances acting, directly or indirectly, on gamma-globin gene expression.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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