Factor X deficiency in North Pakistan.

Area of Science:

• Hematology
• Genetics
• Rare Diseases

Background:

• Factor X deficiency is a rare hereditary coagulation disorder.
• High rates of consanguineous marriages in Pakistan contribute to the prevalence of rare hereditary disorders.
• This study investigated the incidence of Factor X deficiency in North Pakistan.

Purpose of the Study:

• To estimate the incidence of Factor X deficiency in patients presenting with bleeding disorders in North Pakistan.
• To characterize the clinical and demographic features of Factor X deficiency in the studied population.

Main Methods:

• Retrospective review of patient records from January 1997 to June 2002 at the Armed Forces Institute of Pathology.
• Inclusion of all patients referred for suspected bleeding disorder investigations.
• Diagnosis based on prolonged prothrombin time and partial thromboplastin time, corrected by aged serum but not adsorbed plasma; Factor X assays performed where possible.

Main Results:

• 24 cases of Factor X deficiency identified among 571 patients with coagulation disorders.
• Inherited Factor X deficiency confirmed in 20/571 (3.5%) patients.
• Consanguinity was present in 60% of inherited cases; common presentations included prolonged bleeding after trauma (80%) and mucosal bleeding (70%).

Conclusions:

• Factor X deficiency is more common in Pakistan than in Western populations.
• Clinicians should consider Factor X deficiency in patients with unexplained bleeding, prolonged PT/PTTK, and normal platelet counts/thrombotime.
• Mutations causing Factor X deficiency in this region may not lead to severe bleeding diathesis.