Skip to main content
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1986 Aug;39(2):239–244.

Geographical survey of βS-globin gene haplotypes: Evidence for an independent Asian origin of the sickle-cell mutation

A E Kulozik, J S Wainscoat, G R Serjeant, B C Kar, B Al-Awamy, G J F Essan, A G Falusi, S K Haque, A M Hilali, S Kate, W A E P Ranasinghe, D J Weatherall
PMCID: PMC1683923  PMID: 3752087

Abstract

The haplotypes of 152 βS-chromosomes were characterized in six different population groups. The chromosomes of individuals from Nigeria and from the southwest of the Arabian peninsula have the haplotype −−−−+ +−+ previously found in west African, Jamaican, and U.S. American blacks, whereas those from the eastern oases of Saudi Arabia and from the west and the east coast of India showed a different haplotype not found in Africa (++−++ ++−). These data are most consistent with an independent Asian origin of the sickle-cell mutation and provide further information about the geographic distribution of βS-haplotypes in the Old World. The distribution of the Asian βS-haplotype corresponds to the reported geographic distribution of a mild clinical phenotype of homozygous SS disease.

Full text

PDF
239

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Acquaye J. K., Omer A., Ganeshaguru K., Sejeny S. A., Hoffbrand A. V. Non-benign sickle cell anaemia in western Saudi Arabia. Br J Haematol. 1985 May;60(1):99–108. doi: 10.1111/j.1365-2141.1985.tb07390.x. [DOI] [PubMed] [Google Scholar]
  2. Ali S. A. Milder variant of sickle-cell disease in Arabs in Kuwait associated with unusually high level of foetal haemoglobin. Br J Haematol. 1970 Nov;19(5):613–619. doi: 10.1111/j.1365-2141.1970.tb01645.x. [DOI] [PubMed] [Google Scholar]
  3. Antonarakis S. E., Boehm C. D., Giardina P. J., Kazazian H. H., Jr Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. Proc Natl Acad Sci U S A. 1982 Jan;79(1):137–141. doi: 10.1073/pnas.79.1.137. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Antonarakis S. E., Boehm C. D., Serjeant G. R., Theisen C. E., Dover G. J., Kazazian H. H., Jr Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. Proc Natl Acad Sci U S A. 1984 Feb;81(3):853–856. doi: 10.1073/pnas.81.3.853. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Bakioglu I., Hattori Y., Kutlar A., Mathew C., Huisman T. H. Five adults with mild sickle cell anemia share a beta S chromosome with the same haplotype. Am J Hematol. 1985 Nov;20(3):297–300. doi: 10.1002/ajh.2830200313. [DOI] [PubMed] [Google Scholar]
  6. Brittenham G., Lozoff B., Harris J. W., Mayson S. M., Miller A., Huisman T. H. Sickle cell anemia and trait in southern India: further studies. Am J Hematol. 1979;6(2):107–123. doi: 10.1002/ajh.2830060203. [DOI] [PubMed] [Google Scholar]
  7. Gilman J. G., Harano T., Nakatsuji T., Bakioglu I., Reese A. L., Gardiner M. B., Huisman T. H. The ratio of the G gamma and A gamma chains: variations due to anomalies at the molecular level. Ann N Y Acad Sci. 1985;445:235–247. doi: 10.1111/j.1749-6632.1985.tb17193.x. [DOI] [PubMed] [Google Scholar]
  8. Haghshenass M., Ismail-Beigi F., Clegg J. B., Weatherall D. J. Mild sickle-cell anaemia in Iran associated with high levels of fetal haemoglobin. J Med Genet. 1977 Jun;14(3):168–171. doi: 10.1136/jmg.14.3.168. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Kan Y. W., Dozy A. M. Evolution of the hemoglobin S and C genes in world populations. Science. 1980 Jul 18;209(4454):388–391. doi: 10.1126/science.7384810. [DOI] [PubMed] [Google Scholar]
  10. Kan Y. W., Dozy A. M. Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A. 1978 Nov;75(11):5631–5635. doi: 10.1073/pnas.75.11.5631. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. LEHMANN H., MARANJIAN G., MOURANT A. E. Distribution of sickle-cell hemoglobin in Saudi Arabia. Nature. 1963 May 4;198:492–493. doi: 10.1038/198492b0. [DOI] [PubMed] [Google Scholar]
  12. Labie D., Pagnier J., Lapoumeroulie C., Rouabhi F., Dunda-Belkhodja O., Chardin P., Beldjord C., Wajcman H., Fabry M. E., Nagel R. L. Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients. Proc Natl Acad Sci U S A. 1985 Apr;82(7):2111–2114. doi: 10.1073/pnas.82.7.2111. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Mears J. G., Beldjord C., Benabadji M., Belghiti Y. a., Baddou M. A., Labie D., Nagel R. L. The sickle gene polymorphism in North Africa. Blood. 1981 Sep;58(3):599–601. [PubMed] [Google Scholar]
  14. Mears J. G., Lachman H. M., Cabannes R., Amegnizin K. P., Labie D., Nagel R. L. Sickle gene. Its origin and diffusion from West Africa. J Clin Invest. 1981 Sep;68(3):606–610. doi: 10.1172/JCI110294. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Nagel R. L., Fabry M. E., Pagnier J., Zohoun I., Wajcman H., Baudin V., Labie D. Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type. N Engl J Med. 1985 Apr 4;312(14):880–884. doi: 10.1056/NEJM198504043121403. [DOI] [PubMed] [Google Scholar]
  16. Pagnier J., Mears J. G., Dunda-Belkhodja O., Schaefer-Rego K. E., Beldjord C., Nagel R. L., Labie D. Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. Proc Natl Acad Sci U S A. 1984 Mar;81(6):1771–1773. doi: 10.1073/pnas.81.6.1771. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Pembrey M. E., Wood W. G., Weatherall D. J., Perrine R. P. Fetal haemoglobin production and the sickle gene in the oases of Eastern Saudi Arabia. Br J Haematol. 1978 Nov;40(3):415–429. doi: 10.1111/j.1365-2141.1978.tb05813.x. [DOI] [PubMed] [Google Scholar]
  18. Perrine R. P., Pembrey M. E., John P., Perrine S., Shoup F. Natural history of sickle cell anemia in Saudi Arabs. A study of 270 subjects. Ann Intern Med. 1978 Jan;88(1):1–6. doi: 10.7326/0003-4819-88-1-1. [DOI] [PubMed] [Google Scholar]
  19. Wainscoat J. S., Bell J. I., Thein S. L., Higgs D. R., Sarjeant G. R., Peto T. E., Weatherall D. J. Multiple origins of the sickle mutation: evidence from beta S globin gene cluster polymorphisms. Mol Biol Med. 1983 Sep;1(2):191–197. [PubMed] [Google Scholar]
  20. Wainscoat J. S., Hill A. V., Boyce A. L., Flint J., Hernandez M., Thein S. L., Old J. M., Lynch J. R., Falusi A. G., Weatherall D. J. Evolutionary relationships of human populations from an analysis of nuclear DNA polymorphisms. Nature. 1986 Feb 6;319(6053):491–493. doi: 10.1038/319491a0. [DOI] [PubMed] [Google Scholar]
  21. Wainscoat J. S., Thein S. L., Higgs D. R., Bell J. I., Weatherall D. J., Al-Awamy B. H., Serjeant G. R. A genetic marker for elevated levels of haemoglobin F in homozygous sickle cell disease? Br J Haematol. 1985 Jun;60(2):261–268. doi: 10.1111/j.1365-2141.1985.tb07412.x. [DOI] [PubMed] [Google Scholar]
  22. Weatherall D. J., Wainscoat J. S., Thein S. L., Old J. M., Wood W. G., Higgs D. R., Clegg J. B. Genetic and molecular analysis of mild forms of homozygous beta-thalassemia. Ann N Y Acad Sci. 1985;445:68–80. doi: 10.1111/j.1749-6632.1985.tb17176.x. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES