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Fanconi anemia in black African children
L G Macdougall1, M C Greeff, J Rosendorff
1Department of Paediatrics, University of the Witwatersrand, Johannesburg, South Africa.
American Journal of Medical Genetics
|August 1, 1990
Summary
Fanconi anemia (FA) in black African children presents similarly to other ethnic groups but with a poor response to androgens. High mortality rates suggest early bone marrow transplantation should be considered.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Fanconi anemia (FA) is a rare genetic disorder.
- FA is infrequently reported in black children in the US and Africa.
Purpose of the Study:
- To describe the clinical characteristics and outcomes of Fanconi anemia in black African children.
- To estimate the prevalence of FA homozygotes in this population.
Main Methods:
- Retrospective case series of 25 black African children with FA diagnosed in Johannesburg over 11 years.
- Analysis of clinical manifestations, hematologic parameters, chromosomal abnormalities, treatment response, and survival.
Main Results:
- Estimated prevalence of FA homozygotes: 1:476,000.
- Clinical and cytogenetic features were similar to other ethnic groups.
- Poor response to androgens; 68% mortality rate within the observation period.
- Leukemia occurred in 2 patients; mean age at death was 9.8 years.
Conclusions:
- FA in black African children shares similarities with other populations but exhibits poor androgen response and high mortality.
- Early bone marrow transplantation should be considered due to poor treatment response and high mortality rates in this cohort.