A Clinical Evaluation of Plasma Thromboplastin Antecedent (PTA) Deficiency.

Conrad, Fred C.

doi:10.7326/0003-4819-61-4-806_3

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(2 citation statements)

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“…Factor XI deficiency is a rare hereditary hemorrhagic disorder. Estimates of its frequency range up to 18 % of the combined deficiencies of factors VIII, IX and XI (Conrad 1965). However, a maximum figure of 5 to 7% is undoubtedly more nearly correct (Frick 1964).…”

Section: Discussionmentioning

confidence: 99%

“…It must be noted, however, that no geneologicdata were presented in this individual. Other reports of this condition in non-Jews are highly suspect; in all of these reports the diagnosis was based upon circumstantial evidence and no specific diagnosis based upon inability to correct the defect in factor XI-deficient reference plasma was made (Conrad et al 1965, Forrest and Wicks 1968, and Reynolds and Grant 1968. Paradoxically, Jewish representation in such series is conspicuously low or absent.…”

Section: Discussionmentioning

confidence: 99%

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

Zacharski

French

1978

Thromb Haemost

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Summary2 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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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%