title: The molecular basis of HbH disease in Greece.
abstract: Globin gene mapping in 16 Greek individuals with HbH disease and their parents has demonstrated the occurrence of several HbH genotypes brought about by the interaction of two alpha zero-thalassaemia and two alpha+-thalassaemia haplotypes. Eight of the 16 patients had the genotype - -Med/-alpha 3.7, four the genotype -(alpha)20.5/-alpha 3.7 and three the genotype - -Med/alpha alpha T. In one patient the restriction data are consistent with two possible genotypes alpha alpha T/alpha alpha T or - -/alpha alpha T. It is demonstrated that HbH disease in Greece is heterogeneous, with the deletion haplotypes - -Med and -alpha 3.7 being more prevalent than the -(alpha)20.5 and non-deletion (alpha alpha T) haplotypes.
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis; D004262:DNA Restriction Enzymes / Q000032:analysis; D005260:Female; D005838:Genotype; D006801:Humans; D013789:Thalassemia / Q000235:genetics* / Q000473:pathology
chemical_list: D004247:DNA; D004262:DNA Restriction Enzymes