PubMed:10367795 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/10367795","sourcedb":"PubMed","sourceid":"10367795","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/10367795","text":"Fetal hemoglobin expression in the compound heterozygous state for -117 (G--\u003eA) Agamma HPFH and IVSII-745 (C--\u003eG) beta+ thalassemia: a case study.\nWe studied a family in which two inherited defects of the non-alpha-globin cluster segregate: Greek hereditary persistence of fetal hemoglobin (HPFH) and beta-thalassemia. The compound heterozygote is a healthy man with 43% HbF, Ggamma/Agamma ratio (27:73) differing from that of 10 simple heterozygotes for the Greek HPFH (92:8), normal levels of total Hb (13.3 g/dl), and reduced HbA2 levels comparing with the levels of beta-thal heterozygotes for the same mutation. Molecular analysis of the beta-globin genotype revealed the presence of the IVSII-745 (C--\u003eG) beta+ RNA splice mutation in trans with the -117 G--\u003eA Greek HPFH. The beta+ mutation was linked to haplotype VII and the Greek HPFH was associated with haplotype Ia. The father of the compound heterozygote carries the Greek HPFH in trans with the -158 C--\u003eT on the Ggamma promoter, which is linked with haplotype IV. He presented 13.5% HbF with a Ggamma/Agamma ratio 75:25. His daughter was a compound heterozygote for the IVSII-745 mutation in trans with the -158 C--\u003eT, while her HbF levels were 3.7% with a Ggamma/Agamma ratio 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