Comparative study of Fanconi anemia in children of different ethnic origin in South Africa.
A comparative study of clinical, hematologic, and cytogenetic findings was made in 40 black and 35 white children with Fanconi anemia. The black children were Bantu-speaking Negroid stock of diverse tribal origin. The white children were predominantly Afrikaans stock of Dutch/German/French Huguenot origin. All of the patients had IFAR scores of 2 to 4+ and over 80% in each group had increased spontaneous and/or mutagen-induced chromosomal breakage (CB-positive). There were no significant clinical differences between black and white patients or between CB-pos and CB-neg patients, with the exception of white children in whom significantly more CB-pos patients had thumb and radial anomalies than the CB-neg patients. The age-at-onset of hematologic manifestations was the same for all groups, but more black than white CB-pos patients were severely anemic at the time of diagnosis. Response to androgen and steroid therapy occurred in only 33% of black children compared with 86-90% of white children; 81% of black patients died during the 18 year study period compared with 30% of white children, but the age at death was similar. More sophisticated studies are required to determine whether these differences are genetically determined or related to cultural, educational, and socio-economic differences between the two ethnic groups.
Macdougall
L G
LG
Department of Paediatrics, University of the Witwatersrand, Johannesburg, South Africa.
Rosendorff
J
J
Poole
J E
JE
Cohn
R J
RJ
McElligott
S E
SE
D000293:Adolescent; D000728:Androgens / Q000627:therapeutic use; D044383:Black People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003582:Cytogenetics; D005006:Ethnicity; D005199:Fanconi Anemia / Q000097:blood / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D006801:Humans; D007223:Infant; D008297:Male; D011379:Prognosis; D013019:South Africa; D013256:Steroids / Q000627:therapeutic use; D044465:White People / Q000235:genetics
D000728:Androgens; D013256:Steroids