β-thalassemia in Abu Dhabi: Consanguinity and tribal stratification are major factors explaining the high prevalence of the disease

Srdjan Denic, Bashir Aden, Nico Nagelkerke, Awad Al Essa

Research output: Contribution to journalArticlepeer-review

19 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)351-358
Number of pages8
JournalHemoglobin
Volume37
Issue number4
DOIs
Publication statusPublished - 2013

Keywords

  • Disease prevention
  • Hemoglobinopathies
  • Marriages between cousins
  • Population structure
  • Public health

ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Genetics(clinical)
  • Biochemistry, medical

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