Evidence that descendants of three founders constitute about 25% of hemophilia B in the united states

Rhett P. Ketterling, Cynthia D.K. Bottema, John A. Phillips, Steve S. Sommer

Research output: Contribution to journalArticlepeer-review

43 Scopus citations


In our sample of 160 consecutive Caucasian hemophiliacs, 14 (9%) had a G → A transition at bp 10,430 that substitutes serine for glycine 60 in the first EGF domain of the factor IX molecule. Each of these hemophiliacs had clinically mild disease. Haplotype data and familial pedigrees indicate that 12 of these hemophiliacs are likely to be related to a common ancestor. The 13th and 14th patients possess different haplotypes and thus represent independent origins of the mutation. In addition, we have screened these 160 hemophiliacs for the previously reported mutations resulting from founder effects at IIe397 → Thr and Thr296 → Met. Herein we report an additional nine hemophiliacs with the mutant Thr397 allele and five additional hemophiliacs with the mutant Met296 allele. Haplotype data for these 14 hemophiliacs support the original founder effect hypotheses for these mutations. In total, the above three mutations are found in 44 of the 160 seemingly unrelated Caucasian hemophiliacs (28%). The sample includes patierts from all regions of the United States and Ontario, Canada. Descendants of these three founders comprise approximately two-thirds of the missense mutations found in our sample of Caucasian hemophiliacs with clinically mild disease.

Original languageEnglish (US)
Pages (from-to)1093-1096
Number of pages4
Issue number4
StatePublished - Aug 1991

ASJC Scopus subject areas

  • Genetics


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