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- W1966759968 abstract "Tribalism and consanguineous marriages are common in parts of the world with a high prevalence of the β-thalassemia (β-thal) mutations, and increase the risks of homozygosity for this and other recessive disorders. We explored the frequency of β-thal genes and β-thal carriers in 5672 subjects screened before marriage, of whom 2262 were couples. The mean coefficient of inbreeding (F) in the population was estimated from self-reported relationships to prospective spouses in 383 subjects. Overall frequency of β-thal mutations and β-thal carriers in the population were 1.16 and 2.3%, respectively. Among the 14 largest tribes, β-thal carrier frequencies varied from 0 to 13.6%. The estimated F in the population was 0.022. The expected number of couples needed to be screened to detect one couple who were both β-thal carriers in the non inbreeding (F = 0) and inbreeding (F = 0.022) population was 1858 and 646, respectively. However, among 2262 couples, 10 were both β-thal carriers, i.e., 1 in 226 couples, significantly (p = 0.02) more than expected by taking only inbreeding into account. Although β-thal mutations are relatively rare, the burden of β-thal disease is increased eight-fold by tribalism and consanguinity." @default.
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- W1966759968 date "2013-04-22" @default.
- W1966759968 modified "2023-10-07" @default.
- W1966759968 title "β-Thalassemia in Abu Dhabi: Consanguinity and Tribal Stratification are Major Factors Explaining the High Prevalence of the Disease" @default.
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- W1966759968 doi "https://doi.org/10.3109/03630269.2013.790827" @default.
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