Fanconi anemia (FA) is a genetically heterogeneous chromosomal instability 
syndrome associated with multiple congenital abnormalities, aplastic anemia, and 
cancer. We report that a deletion mutation in the FANCG gene 
(c.637_643delTACCGCC) was present in 82% of FA patients in the black populations 
of Southern Africa. These patients originated from South Africa, Swaziland, 
Mozambique, and Malawi. The mutation was found on the same haplotype and was 
present in 1% of controls from the black South African population. These data 
indicate that the birth incidence of FA in this population is higher than 1 in 
40 000, which is much higher than previously supposed, and suggest that the 
FANCG deletion is an ancient founder mutation in Bantu-speaking populations of 
sub-Saharan Africa. Diagnostic screening is now possible by means of a simple 
DNA test.