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pubmed-article:7686036pubmed:abstractTextGenetic factors determining the difference in severity of anaemia in beta-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 alpha-thalassaemia 2 and haemoglobin Constant Spring could significantly decrease the severity of the disease. Inheritance of a beta-thalassaemia chromosome with Xmn I cleavage site at position -158 of the G gamma-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 the G gamma-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 and G gamma/A gamma ratio act separately or through common mechanisms in reducing anaemia remains to be ascertained.lld:pubmed
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pubmed-article:7686036pubmed:articleTitleSeverity differences in beta-thalassaemia/haemoglobin E syndromes: implication of genetic factors.lld:pubmed
pubmed-article:7686036pubmed:affiliationDepartment of Medicine, Faculty of Medicine, Siriraj Hospital, Bangkok, Thailand.lld:pubmed
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pubmed-article:7686036pubmed:publicationTypeResearch Support, U.S. Gov't, P.H.S.lld:pubmed
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