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Fetal hemoglobin expression in compound heterozygotes for −117 (G→A) A γ HPFH and β 0 39 nonsense thalassemia
Author(s) -
Pistidda Paola,
Frogheri Laura,
Oggiano Lina,
Guiso Luciana,
Manca Laura,
Dore Fausto,
Masala Bruno,
Gilman John G.,
Longinotti Maurizio
Publication year - 1995
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830490402
Subject(s) - fetal hemoglobin , compound heterozygosity , heterozygote advantage , haplotype , hemoglobinopathy , thalassemia , genetics , nonsense mutation , microbiology and biotechnology , globin , biology , beta thalassemia , beta (programming language) , gene , hemoglobin , fetus , mutation , genotype , hemolytic anemia , immunology , biochemistry , pregnancy , missense mutation , computer science , programming language
Abstract The‐117(G→A) A γ hereditary persistence of fetal hemoglobin (Greek HPFH) and β 0 39‐thal mutations are rather frequent in Sardinia so that their interaction is to be expected. Characterization of eight compound heterozygotes for these defects indicated that HPFH was linked to haplotype VII and β 0 39‐thal to haplotype II. Haplotype II β 0 39‐thal chromosome carries the A γ T gene which is a useful marker of γ‐gene expression. Since the Hb F level in these compound heterozygotes was significantly higher than in 46 −117 HPFH carriers, the A γ t , and G γ globin level was determined. A γ T was underexpressed while G γ was significantly increased, which suggests that in −117 A γ HPFH/β 0 39‐thal healthy subjects the increase in Hb F production is determined only by the −117 mutated A γ gene and the adjacent G γ gene. © 1995 Wiley‐Liss, Inc.