Gaucher disease in the Afrikaner population of South Africa.
The chronic non-neuropathic form of Gaucher disease has been encountered in 10 individuals in the Afrikaner population of South Africa. The minimum prevalence in this community is 1 in 200 000 with a gene frequency of 0,0022, a heterozygote rate of 0,0044 and at least 9 000 clinically asymptomatic carriers of the abnormal gene. This gene must be present in about 1 in every 220 Afrikaners. The majority of previously reported patients have been Ashkenazi Jews, in whom the condition is relatively benign. By contrast, the disorder in the Afrikaners is precocious in onset, with serious complications and rapid progression. The occurrence of Gaucher disease in a relatively high frequency in the Afrikaner population is important in terms of differential diagnosis, genetic counselling and prevention.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D013019:South Africa; D044465:White People