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One of the two common mutations causing factor XI deficiency in Ashkenazi
Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient
gene pool of Jews [see comments]
O Shpilberg, H Peretz, A Zivelin, R Yatuv, A Chetrit, T Kulka, C Stern, E Weiss and U Seligsohn
Department of Hematology, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
In recent years four mutations causing factor XI deficiency have been
identified in Jews of Ashkenazi (European) origin. Two of them, type II (a
nonsense mutation) and type III (a missense mutation), were found to
prevail among 125 unrelated Ashkenazi Jews with severe factor XI
deficiency. A finding of type II mutation in four unrelated Iraqi- Jewish
families raised the possibility that this mutation is also common in Iraqi
Jews, who represent the ancient gene pool of the Jews. A molecular-based
analysis performed in 1,040 consecutively hospitalized patients disclosed
the following results: Among 531 Ashkenazi-Jewish patients, the type II
allele frequency was 0.0217 and among 509 Iraqi-Jewish patients, 0.0167 (P
= .50). The type III allele frequency in the Ashkenazi-Jewish patients was
0.0254, whereas none of 502 Iraqi-Jewish patients examined had this
mutation. These data suggest that the type II mutation was present in Jews
already 2.5 millenia ago. The data also indicate that the estimated risk
for severe factor XI deficiency in Ashkenazi Jews (due to either genotype)
is 0.22% and in Iraqi Jews, 0.03%, and that the estimated risk of
heterozygosity in Ashkenazi Jews is 9.0% and in Iraqi Jews, 3.3%. As
patients with severe factor XI deficiency are prone to bleeding after
injury and patients with partial deficiency may have similar bleeding
complications when an additional hemostatic derangement is present, the
observed high frequencies should be borne in mind when surgery is planned
for individuals belonging to these populations.
Volume 85,
Issue 2,
pp. 429-432,
01/15/1995
Copyright © 1995 by The American Society of Hematology
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