Gaucher's disease in the Cape Coloured population of the RSA, including a family with 5 affected siblings
Date
1987
Journal Title
Journal ISSN
Volume Title
Publisher
Health & Medical Publishing Group
Abstract
Nine Cape Coloured children from four 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 β-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.
Description
CITATION: Swart, A. L., Hesseling, P. B. & Hayden, M. R. 1987. Gaucher's disease in the Cape Coloured population of the RSA, including a family with 5 affected siblings. South African Medical Journal, 71:97-99.
The original publication is available at http://www.samj.org.za
The original publication is available at http://www.samj.org.za
Keywords
Gaucher's disease, Children -- Diseases