Fanconi anemia: another disease of unusually high prevalence in the Afrikaans population of South Africa

Am J Med Genet. 1987 Aug;27(4):793-7. doi: 10.1002/ajmg.1320270408.


We have investigated the prevalence of homozygous and heterozygous Fanconi anemia (FA) in the Afrikaans community of the southern Transvaal Province. The minimum birth incidence of FA in white, Afrikaans-speaking South Africans was estimated to be 1 in 22,000, with the calculated heterozygote prevalence being approximately 1 in 77. Alternatively, based on a point prevalence of 1 in 26,000, the carrier rate may be estimated as 1 in 83. It is postulated that this unusually high frequency of the gene for FA is attributable to founder effect.

MeSH terms

  • Abnormalities, Multiple / epidemiology*
  • Abnormalities, Multiple / genetics
  • Anemia, Aplastic / epidemiology*
  • Fanconi Anemia / epidemiology*
  • Fanconi Anemia / genetics
  • Female
  • Gene Frequency
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • South Africa
  • White People*