title: Hereditary plasma thromboplastin antecedent (PTA, FXI) deficiency in a Saudi family.
abstract: A rare case of factor XI (PTA) deficiency was discovered in a Saudi family in the Riyadh area. Nine members of the family were studied. Two were found to have a severe PTA deficiency; levels of factor XI clotting activity were 0.01 i.u./ml and 0.02 i.u./ml respectively. Both plasmas were markedly deficient in factor XI antigen and appeared to be negative for cross-reactive material (CRM-). The parents were first cousins and both were found to have a minor PTA deficiency. Factor XI levels were: mother 0.048 i.u./ml and father 0.33 i.u./ml. Another sibling was found to have a FXI level of 0.47 i.u./ml. Menorrhagia and bleeding for 1 day after tooth extraction were the main bleeding manifestations found in one member with severe PTA deficiency. Clinically this member presented with iron deficiency anaemia. Other family members had no significant history of bleeding tendency. This is the first report of a Saudi Arabian family with PTA deficiency.
authors.affiliation: Department of Haematology, King Abdul Aziz University Hospital, King Saud University, Riyadh, Saudi Arabia.
authors.forename: A N
authors.initials: AN
authors.lastname: al-Adhadh
mesh_terms: D000293:Adolescent; D000328:Adult; D001780:Blood Coagulation Tests; D002648:Child; D002675:Child, Preschool; D005173:Factor XI Deficiency / Q000097:blood / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D012529:Saudi Arabia