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Thromb Haemost 1978; 39(01): 215-222
DOI: 10.1055/s-0038-1646672
Original Article
Schattauer GmbH Stuttgart

Factor XI (PTA) Deficiency in an English-American Kindred

Leo R Zacharski
The Departments of Medicine and Pathology, Dartmouth Medical School, Hanover, NH, USA
The Veterans Administration Hospital, White River Junction, VT, USA
The Mary Hitchcock Memorial Hospital, Hanover, NH, USA
,
E Elizabeth French
The Departments of Medicine and Pathology, Dartmouth Medical School, Hanover, NH, USA
The Veterans Administration Hospital, White River Junction, VT, USA
The Mary Hitchcock Memorial Hospital, Hanover, NH, USA
› Author Affiliations
Further Information

Publication History

Received 28 February 1977

Accepted 22 June 1977

Publication Date:
12 July 2018 (online)

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Summary

2 sisters of English-American descent had a mild bleeding syndrome due to marked deficiency (less than 1 % activity) of factor XI. This defect was transmitted in an autosomal recessive manner. Although factor XI deficiency was previously thought to occur largely, if not exclusively in Jews, extensive review of geneologic records and analysis of family names failed to disclose Jewish ancestry. These findings, together with the existence of several definite and presumed consanguineous English-American ancestors, the fact that family members had resided in a restricted geographic area for many generations, and analysis of English and Jewish immigration patterns lead to the conclusion that this defect is not likely to be of Jewish derivation. Should this mutation have occurred in the distant past it is conceivable that the gene pool for this defect is substantial, particularly in certain areas in New England.

 

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