Factor XI Deficiency in Ashkenazi Jews in Israel

• Published in: The New England journal of medicine Vol. 325; no. 3; pp. 153 - 158
• Main Authors: Asakai, Rei, Chung, Dominic W, Davie, Earl W, Seligsohn, Uri
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 18.07.1991
• Subjects: Alleles; Antigens; Biochemistry; Biological and medical sciences; Blood Coagulation Tests; Blood Loss, Surgical - prevention & control; Deoxyribonucleic acid; DNA; Enzymes; Factor XI - analysis; Factor XI Deficiency - blood; Factor XI Deficiency - complications; Factor XI Deficiency - genetics; Female; Genetic Carrier Screening; Genetics; Genotype; Hematologic and hematopoietic diseases; Hemorrhage - etiology; Heterozygote; Homozygote; Humans; Israel; Jewish people; Jews; Male; Medical sciences; Molecular weight; Mutation; Plasma; Platelet diseases and coagulopathies; Polymerase Chain Reaction; Proteins; Surgery; Asia; Israel; Human; Factor XI; Deficiency; Point mutation; Exploration; Hemopathy; Molecular biology; Coagulation factor; Jew; Coagulopathy; Ethnic group
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJM199107183250303

FACTOR XI (plasma thromboplastin antecedent, or PTA) is a plasma glycoprotein (molecular weight, 140,000) that participates in the early phase of the intrinsic pathway of the blood-coagulation cascade. It circulates in plasma in a precursor form and is converted to an active serine protease by minor proteolysis. The gene coding for the protein has been characterized and shown to be 23 kilobases long and composed of 15 exons and 14 introns. 1 It is located on the distal end of the long arm of chromosome 4 (4q35). 2 A deficiency of factor XI is an unusual coagulopathy in that it has extreme . . .