<i>F9</i> missense variant hot spots associated with qualitative protein defects causing hemophilia B.

ABSTRACT: Hemophilia B, a rare bleeding disorder, is caused by genetic variations in F9. Although quantitative factor IX (FIX) deficiencies are successfully treated by protein replacement therapy, qualitative defects may result in dysfunctional proteoforms in the circulation, potentially interfering with prophylactically or therapeutically administered recombinant FIX (rFIX) concentrates. To delineate the F9 missense variants associated with qualitative defects, we integrated genotype and phenotype from the European Association for Haemophilia and Allied Disorders F9 Coagulation Factor Variant Database. Of the 663 patients for whom activity (FIX:Act) and antigen (FIX:Ag) data were available, 40% of patients with severe hemophilia (n = 248), 50% of patients with moderate hemophil

SUBMITTER: van Duijl TT 

PROVIDER: S-EPMC12680096 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature