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Mild β+(-87)-thalassemia CACCC box mutation is associated with elevated fetal hemoglobin expression in cis

Gilman, John G. and Manca, Laura and Frogheri, Maria Laura and Pistidda, Paola Matilde and Guiso, Luciana and Longinotti, Maurizio Roberto and Masala, Bruno Lucio (1994) Mild β+(-87)-thalassemia CACCC box mutation is associated with elevated fetal hemoglobin expression in cis. American Journal of Hematology, Vol. 45 (3), p. 265-267. eISSN 1096-8652. Article.

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DOI: 10.1002/ajh.2830450316

Abstract

The β0-thalassemia codon 39 nonsense mutation predominant in Sardinia is severe, and homozygotes are transfusion dependent. Two-thirds of β0 39 alleles are linked to AγT (haplotype II). Onefourth are linked to AγI (haplotypes I and IX), as is the mild β+-thalassemia -87 C→G mutation (haplotype VIII). β+0-thalassemia VIII/II compound heterozygotes have significantly higher AγI:AγT (23:7) than β0-thalassemia I/II (24:20) or IX/II (16:17) cases. This suggests that the β+-87 mutation is associated with elevated γ expression in cis, which may contribute to the lack of transfusion-dependence in β+0 cases.

Item Type:Article
ID Code:3101
Status:Published
Refereed:Yes
Uncontrolled Keywords:Thalassemia, β-thalassemia, AγT
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
Publisher:Wiley-Liss
eISSN:1096-8652
Deposited On:09 Oct 2009 09:02

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