Geographical survey of beta S-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation

• Published in: American journal of human genetics Vol. 39; no. 2; pp. 239 - 244
• Main Authors: Kulozik, A E, Wainscoat, J S, Serjeant, G R, Kar, B C, Al-Awamy, B, Essan, G J, Falusi, A G, Haque, S K, Hilali, A M, Kate, S
• Format: Journal Article
• Language: English
• Published: United States 01.08.1986
• Subjects: Africa - ethnology; Anemia, Sickle Cell - genetics; Asia - ethnology; Genetics, Population; Genotype; Globins - genetics; Hemoglobin, Sickle - genetics; Humans; Original; Asia; Africa
• ISSN: 0002-9297; 1537-6605

The haplotypes of 152 beta S-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 beta S-haplotypes in the Old World. The distribution of the Asian beta S-haplotype corresponds to the reported geographic distribution of a mild clinical phenotype of homozygous SS disease.