A comparative study of clinical characteristics and severity of hemophilia

Abstract

Background: Hemophilia is a congenital bleeding disorder caused by a lack of clotting factor in the blood. Hemophilia A, B, and C are caused by congenital deficiencies of clotting factors VIII, IX, and IX which are involved in thrombin generation of intrinsic coagulation pathway. Hemophilia A and B is a recessive X-linked congenital bleeding disorder but hemophilia C is typically inherited in an autosomal recessive, these are rare inherited coagulation disorders. This study was conducted based on the lack of database on the epidemiology, clinical type and severity in hemophilia in Mongolia. Aim: The aim of this study was to investigate the relationship between clotting factor levels and bleeding severity of hemophilia. Materials and Methods: A cross sectional study included a total of 30 patients with hemophilia who were registered from May to October 2025 at the Comprehensive Hemophilia Center, MNUMS. The study was approved by the Research Ethics Committee of MNUMS. Results: In this study 30 patients with hemophilia mean age was 18.4±15.7 years, and 96.7% were male. When categorized by age group, 13.4% (n=4) were under 4 years, 40% (n=12) were 5–13 years, 10% (n=3) were 14–18 years, 33.3% (n=10) were 19–44 years, and 3.3% (n=1) were over 45 years. Of the total cases, 83.3% (n=25) had Hemophilia A and 16.7% (n=5) had Hemophilia B. Of the total case, 80% of cases were classified as severe and 20% as moderate hemophilia. Additionally, 40% of cases had joint complications. Conclusion: Joint bleeding was observed in 41.6% of patients with severe hemophilia and in 33.3% of those with moderate hemophilia. Target joint damage was found in 40% of the study population because 86.6% of patients were not able to receive prophylactic factor replacement therapy. Joint damage, joint deformities, reduced range of motion, and deterioration in quality of life were all adverse outcomes related to the early onset of joint bleeding.