Gaucher's disease in the Cape coloured population of the RSA, including a family with 5 affected siblings.
Nine Cape Coloured children from 4 families with severe non-neuropathic Gaucher's disease are documented. The diagnosis was confirmed histologically in the bone marrow, spleen and liver, and by serum acid phosphatase and leucocyte beta-glucosidase assays. This represents a minimum prevalence for Gaucher's disease of 1 in 247,350 in this population and an approximate genetic carrier rate of 1 in 230 for the abnormal gene. A family with 5 affected siblings is recorded. The severe early clinical expression documented in these coloured patients is similar to that described in the Afrikaner population and differs from the less severe expression of Gaucher's disease in the South African Ashkenazi Jewish population. Gaucher's disease in the Cape Coloured population presents with a precocious onset, causes severe complications and progresses rapidly.
D044383:Black People; D002648:Child; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D013019:South Africa; D001617:beta-Glucosidase / Q000032:analysis
D001617:beta-Glucosidase