A gene controlling fetal hemoglobin expression in adults is not linked to the non-alpha globin cluster.
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.
D000328:Adult; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D005786:Gene Expression Regulation; D005796:Genes; D008040:Genetic Linkage; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D013789:Thalassemia / Q000097:blood / Q000235:genetics
D005914:Globins; D004247:DNA; D005319:Fetal Hemoglobin; D004262:DNA Restriction Enzymes