Factor XI (PTA) deficiency in an English-American kindred. 1978

L R Zacharski, and E E French

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.

UI MeSH Term Description Entries
D007585 Jews An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM. Jew
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D003241 Consanguinity The magnitude of INBREEDING in humans. Inbreeding, Human,Consanguineous Marriage,Consanguinous Mating,Consanguineous Marriages,Consanguinities,Consanguinous Matings,Human Inbreeding,Human Inbreedings,Inbreedings, Human,Marriage, Consanguineous,Marriages, Consanguineous,Mating, Consanguinous,Matings, Consanguinous
D004739 England A part of Great Britain within the United Kingdom.
D005173 Factor XI Deficiency A hereditary deficiency of blood coagulation factor XI (also known as plasma thromboplastin antecedent or PTA or antihemophilic factor C) resulting in a systemic blood-clotting defect called hemophilia C or Rosenthal's syndrome, that may resemble classical hemophilia. Hemophilia C,Rosenthal Syndrome,Deficiency, Factor 11,Deficiency, Factor Eleven,Deficiency, Factor XI,Factor 11 Deficiency,Factor Eleven Deficiency,Plasma Thromboplastin Antecedent Deficiency,Rosenthal's Syndrome,Deficiencies, Factor 11,Deficiencies, Factor Eleven,Deficiencies, Factor XI,Factor 11 Deficiencies,Factor Eleven Deficiencies,Factor XI Deficiencies,Rosenthal Syndromes,Rosenthal's Syndromes,Rosenthals Syndrome,Syndrome, Rosenthal,Syndrome, Rosenthal's
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014481 United States A country in NORTH AMERICA between CANADA and MEXICO.

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