Fetal hemoglobin expression in compound heterozygotes for −117 (G→A)Aγ HPFH and β039 nonsense thalassemia

A)A gamma hereditary persistence of fetal hemoglobin (Greek HPFH) and beta zero 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 beta zero 39-thal to haplotype II. Haplotype II beta zero 39-thal chromosome carries the A gamma T gene which is a useful marker of gamma-gene expression. Since the Hb F level in these compound heterozygotes was significantly higher than in 46 -117 HPFH carriers, the A gamma I, A gamma T, and G gamma globin level was determined. A gamma T was underexpressed while G gamma was significantly increased, which suggest that in -117 A gamma HPFH/beta zero 39-thal healthy subjects the increase in Hb F production is determined only by the -117 mutated A gamma gene and the adjacent G gamma gene. -->
ISSN: 1096-8652
0361-8609
DOI: 10.1002/ajh.2830490402
Přístupová URL adresa: https://explore.openaire.eu/search/publication?articleId=doi_________::fede8b07cb094544660142c72dc560fb
https://doi.org/10.1002/ajh.2830490402
Rights: CLOSED
Přírůstkové číslo: edsair.doi...........fede8b07cb094544660142c72dc560fb
Autor: John G. Gilman, Fausto Dore, Maurizio Roberto Longinotti, Laura Manca, Luciana Guiso, Paola Pistidda, L. Oggiano, Bruno Lucio Masala, Laura Frogheri
Rok vydání: 1995
Předmět:
Zdroj: American Journal of Hematology. 49:267-270
ISSN: 1096-8652
0361-8609
DOI: 10.1002/ajh.2830490402
Popis: The -117(G-->A)A gamma hereditary persistence of fetal hemoglobin (Greek HPFH) and beta zero 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 beta zero 39-thal to haplotype II. Haplotype II beta zero 39-thal chromosome carries the A gamma T gene which is a useful marker of gamma-gene expression. Since the Hb F level in these compound heterozygotes was significantly higher than in 46 -117 HPFH carriers, the A gamma I, A gamma T, and G gamma globin level was determined. A gamma T was underexpressed while G gamma was significantly increased, which suggest that in -117 A gamma HPFH/beta zero 39-thal healthy subjects the increase in Hb F production is determined only by the -117 mutated A gamma gene and the adjacent G gamma gene.
Databáze: OpenAIRE
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