Fetal hemoglobin levels and beta (s) globin haplotypes in an Indian populations with sickle cell disease.

Abstract

To further explore the cause for variation in hemoglobin F (Hb F) levels in sickle cell disease, the beta globin restriction-fragment length polymorphism haplotypes were determined in a total of 303 (126 SS, 141 AS, 17 S beta(0), 7 A beta, (0) and 12 AA) Indians from the state of Orissa. The beta(s) globin gene was found to be linked almost exclusively to a beta(S) haplotype ( -++-), which is also common in Saudi Arabian patients from the Eastern Province (referred to as the Asian beta(s) haplotype). By contrast, the majority of beta A and beta(0) thalassemia globin genes are linked to haplotypes common in all European and Asian populations (+-----[+/-]; --++-++). Family studies showed that there is a genetic factor elevating Hb F levels dominantly in homozygotes (SS). This factor appears to be related to the Asian beta(s) globin haplotype, and a mechanism for its action is discussed. There is also a high prevalence of an independent Swiss type hereditary persistence of fetal hemoglobin (HPFH) determinant active in both the sickle cell trait and in sickle cell disease.

5 Figures and Tables

Statistics

0100200'92'95'98'01'04'07'10'13'16
Citations per Year

500 Citations

Semantic Scholar estimates that this publication has 500 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Kulozik1987FetalHL, title={Fetal hemoglobin levels and beta (s) globin haplotypes in an Indian populations with sickle cell disease.}, author={Andreas E. Kulozik and Bimal C. Kar and Ranjan Satapathy and Beryl E. Serjeant and Graham R. Serjeant and David J. Weatherall}, journal={Blood}, year={1987}, volume={69 6}, pages={1742-6} }