Characterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutation.

ABSTRACT:

Background

Factor XII (FXII) deficiency is an interesting condition that causes prolonged activated partial thromboplastin time without bleeding diathesis. FXII may be not important in hemostasis, but still plays roles in thrombosis and inflammation. In order to raise clinical awareness about this condition, we studied patients with severe FXII deficiency and their relatives.

Methods

Consecutive severely FXII deficient patients presenting from 1995 to 2020 were recruited from two medical centers in Taiwan. Index patients and their families were tested for FXII function, antigen and F12 gene. F12 variants were constructed into the pIRES-hrGFP vector and expressed on human embryonic kidney cells (HEK293T). FXII antigen and activity were analyzed.

Results

We found five s

SUBMITTER: Chou SC 

PROVIDER: S-EPMC9174919 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature