Study on the origins of hemoglobins S, E, C and Constant Spring by globin gene haplotype analysis

Abstract

Haplotypes are the patterns of chromosome background constructed from multiple DNA polymorphisms along the chromosome. They are especially useful for studying of genetic origin of mutation and ethnic relationship. In this paper, globin gene haplotypes associated with common hemoglobin (Hb) variants in multiple populations were summarized from a total of 33 published articles including Hb S (24 articles), Hb C (4 articles), Hb E (3 articles) and Hb Constant Spring (2 articles). Data were accumulated for predicting origins of the corresponding mutations and determining ethnic relationship. The results showed that at least five common haplotypes were associated with Hb S; 4 of which were found mainly in Africa and Mediterranean. The remaining haplotype, found only in Asia represented different origin. Two dominant origins were found for the Hb E in Southeast Asia i.e. one in the Northern and Central areas along Mekong river basin and another was associated with those living in the southern part of Mekong river and Cambodia. Hb C had at least 2 origins; an African origin found in American black, West African and Sicilian and non African origin found only in Asia. Haplotype analysis also indicated multiple origins of Hb Constant Spring gene; a more common Asian origin found in Southeast Asian and Chinese and a rarer origin of Mediterranean. Basic knowledge of chromosome background of these common Hb variants are very useful for population genetic study of Hb variants in world population.