A novel Cys328-terminator mutant implicated in severe coagulation factor XIII deficiency: a case report.

ABSTRACT:

Background

Factor XIII (FXIII) deficiency is an extremely rare bleeding disorder that is commonly due to mutations in the FXIIIA subunit gene (F13A1), and it has been reported to have a prevalence of one per 2 million. We describe a new genetic variant in the F13A1 gene that caused a patient to suffer from lifelong hemorrhagic diathesis.

Case presentation

We evaluated a 20-year-old female with umbilical cord bleeding after birth, an intracerebral hemorrhage at age 6, and other bleeding episodes, including hematuria and cephalohematoma, who suffered from a lifelong hemorrhagic diathesis. The clot solubility test showed that the clot of the patient was dissolved in urea solution at 10 h. Genetic testing identified a novel homozygous mutation, c.984C > A(p. Cys328stop), resulti

SUBMITTER: Cai R 

PROVIDER: S-EPMC7650518 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature