Fanconi anemia: Another disease of unusually high prevalence in the Afrikaans population of South africa

Authors

  • Dr. Jennifer Rosendorff,

    Corresponding author
    1. MRC Human Ecogenetics Research Unit, Department of Human Genetics, School of Pathology, South African Institute for Medical Research and University of the Witwatersrand, Johannesburg, South Africa
    • Dept. of Human Genetics, SAIMR, PO Box 1038, Johannesburg 2000, South Africa
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  • Renée Bernstein,

    1. MRC Human Ecogenetics Research Unit, Department of Human Genetics, School of Pathology, South African Institute for Medical Research and University of the Witwatersrand, Johannesburg, South Africa
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  • Lorna Macdougall,

    1. Metabolic and Nutrition Research Unit, Department of Pediatrics, University of the Witwatersrand and Baragwanath Hospital, Johannesburg, South Africa
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  • Trefor Jenkins,

    1. MRC Human Ecogenetics Research Unit, Department of Human Genetics, School of Pathology, South African Institute for Medical Research and University of the Witwatersrand, Johannesburg, South Africa
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  • John M. Opitz,

    EditorSearch for more papers by this author
  • James F. Reynolds

    EditorSearch for more papers by this author

Abstract

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.

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