Bernard-Soulier syndrome in two Afrikaner families

The hereditary autosomal recessive disorder of platelet function known as the Bernard-Soulier syndrome (B-SS) is described in two Afrikaner families. Consanguinity exists in one of the families, which is descended from Trekboer Afrikaners who migrated from Rustenburg, Transvaal, to Angola in 1876 and then to SWA/Namibia in the 1920s. Since both families have French Huguenot ancestors and since there are 7 confirmed and 5 reported cases of B-SS in these two families, founder effect may be operating and causing this rare disorder to occur more frequently in this population group than would otherwise be expected.