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Title: Severity differences in β‐thalassaemia/haemoglobin E syndromes: implication of genetic factors
Authors: Pranee Winichagoon
Varaporn Thonglairoam
Suthat Fucharoen
Prapon Wilairat
Yasuyuki Fukumaki
Prawase Wasi
Faculty of Medicine, Thammasat University
Institute of Sciences and Technology for Development
Mahidol University
Kyushu University
Keywords: Medicine
Issue Date: 1-Jan-1993
Citation: British Journal of Haematology. Vol.83, No.4 (1993), 633-639
Abstract: Summary. Genetic factors determining the difference in severity of anaemia in β‐thalassaemia/HbE disease were studied in 90 patients who had haemoglobin levels, at steady state, ranging from 4.2 to 12.6 g/dl. Co‐inheritance of α‐thalassaemia 2 and haemoglobin Constant Spring could significantly decrease the severity of the disease. Inheritance of a β‐thalassaemia chromosome with Xmn I cleavage site at position — 158 of theGγ‐globin gene which was linked to the haplotype ‐ + ‐ ++ or ++ ‐ ++, was associated with a milder anaemia. Two copies of these alleles were necessary to produce a significant clinical effect. Increased expression of theGγ‐globin gene and higher production of haemoglobin F. which could reduce the overall globin chain imbalance, were also associated with homozygosity for the Xmn I cleavage site and thus with less severe anaemia. However, this effect was not seen in Xmn I site heterozygotes. Whether the effects of the Xmn I polymorphism, HbF concentration andGγ/Aγ ratio act separately or through common mechanisms in reducing anaemia remains to be ascertained. Copyright © 1993, Wiley Blackwell. All rights reserved
ISSN: 13652141
Appears in Collections:Scopus 1991-2000

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