Pranee WinichagoonVaraporn ThonglairoamSuthat FucharoenPrapon WilairatYasuyuki FukumakiPrawase WasiFaculty of Medicine, Thammasat UniversityInstitute of Sciences and Technology for DevelopmentMahidol UniversityKyushu University2018-08-102018-08-101993-01-01British Journal of Haematology. Vol.83, No.4 (1993), 633-63913652141000710482-s2.0-0027408741https://repository.li.mahidol.ac.th/handle/123456789/22796Summary. 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 reservedMahidol UniversityMedicineArticleSCOPUS10.1111/j.1365-2141.1993.tb04702.x