Keywords
Factor XII deficiency; aPTT-activated partial thromboplastin time; Hemostasis.
Abstract
Factor XII deficiency is a rare condition of the coagulation system with autosomal-recessive inheritance. Affected patients are often asymptomatic and are diagnosed incidentally during preoperative investigations or during hospitalization on the basis of an isolated, prolonged activated partial thromboplastin time (aPTT). We report a 39-year-old female who was admitted to hospital for early artificial abortion and abnormal blood coagulation function. We found a novel nonsense mutation (c.247C>T, p. Gln83*) in one of the exon coding regions of the F12 gene on chromosome 5 in a patient with a prolonged aPTT.