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

Pistidda, Paola Matilde and Frogheri, Maria Laura and Oggiano, Lina and Guiso, Luciana and Manca, Laura and Dore, Fausto and Masala, Bruno Lucio and Gilman, John G. and Longinotti, Maurizio Roberto (1995) Fetal hemoglobin expression in compound heterozygotes for -117 (G→A) Aγ HPFH and β039 nonsense thalassemia. American Journal of Hematology, Vol. 49 (4), p. 267-270. eISSN 1096-8652. Article.

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DOI: 10.1002/ajh.2830490402


The-117(G→A) Aγ hereditary persistence of fetal hemoglobin (Greek HPFH) and β039-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 β039-thal to haplotype II. Haplotype II β039-thal chromosome carries the AγT 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 Aγt, and Gγ globin level was determined. AγT was underexpressed while Gγ was significantly increased, which suggests that in -117 Aγ HPFH/β039-thal healthy subjects the increase in Hb F production is determined only by the -117 mutated Aγ gene and the adjacent Gγ gene.

Item Type:Article
ID Code:3099
Uncontrolled Keywords:Hb F expression, HPFH/β-thalassemia, compound heterozygosity
Subjects:Area 05 - Scienze biologiche > BIO/10 Biochimica
Area 06 - Scienze mediche > MED/15 Malattie del sangue
Divisions:001 Università di Sassari > 01 Dipartimenti > Scienze fisiologiche, biochimiche e cellulari
001 Università di Sassari > 03 Istituti > Ematologia
002 Altri enti e centri di ricerca del Nord Sardegna > CNR-Consiglio Nazionale delle Ricerche > Istituto di genetica delle popolazioni, Alghero
Deposited On:08 Oct 2009 13:23

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