title: Fanconi anemia in black African children.
abstract: Fanconi anemia (FA) has rarely been reported in black children either in the United States or Africa. This report describes 25 black African children with FA seen in Johannesburg over an 11-year period. The prevalence of homozygotes was estimated to be 1:476,000. Clinical manifestations, mean age at diagnosis, and hematologic and chromosome abnormalities were similar to those described in other ethnic groups. Response to androgens was poor and most patients required regular transfusions. Seventeen (68%) of the children died during the 11-year observation period. Leukemia was the terminal event in 2 patients. The mean age at death was 9.8 years and the mean time between diagnosis and death 2.3 years. The poor response to androgens, high mortality, and early mean age at death would favor consideration of early bone marrow transplantation in these children.
authors.affiliation: Department of Paediatrics, University of the Witwatersrand, Johannesburg, South Africa.
authors.forename: L G
authors.initials: LG
authors.lastname: Macdougall
authors.forename: M C
authors.initials: MC
authors.lastname: Greeff
authors.forename: J
authors.initials: J
authors.lastname: Rosendorff
authors.forename: R
authors.initials: R
authors.lastname: Bernstein
mesh_terms: D000353:Africa, Southern / Q000453:epidemiology; D000728:Androgens / Q000627:therapeutic use; D000741:Anemia, Aplastic / Q000453:epidemiology*; D001856:Bone Marrow Examination; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005199:Fanconi Anemia / Q000150:complications / Q000453:epidemiology* / Q000235:genetics / Q000628:therapy; D005260:Female; D006403:Hematologic Tests; D006801:Humans; D015994:Incidence; D008297:Male
chemical_list: D000728:Androgens