ĐẶC ĐIỂM LÂM SÀNG, XÉT NGHIỆM Ở BỆNH NHÂN HEMOPHILIA B CÓ ĐỘT BIẾN GEN F9 TẠI VIỆN HUYET HỌC - TRUYEN MÁU TRUNG ƯONG

Abstract

Objective: Describe clinical and laboratory characteristics of patients with hemophiia B with mutation of the F9 gene. Methods: Cross-sectional study on 65 unrelated patients with hemophilia B. All patients had F9 gene mutation detected by genetic sequencing method. Results: There were 65 cases in this study with average age was 19,9 ±15,7. The median age at diagnosis was 10,5 ± 14,2 years. Hemarthrosis are most common sign in hemophilia B patients (84,6%), the ratio of muscle bleeding, bruising and tooth bleeding was 58,5%, 72,3% and 64,6% respectively. The ratio of patient with amyotrophy and joint deformity are 35,4% and 38.5%. We found that 61,5% of them were severe, 33,8% were moderate and 4,6% were mild hemophilia B. All patients had prolonged APTT. Average APTTr was 3,07 ± 1,03, average FIX level was 1,94 ± 4,33. Conclusions: Joint bleeding is most common in patients with hemophilia B. Early diagnosis of hemophilia will reduce the risk of complications of the disease and death from prolonged bleeding which also helping with better hemophilia management and improve the quality of life for patients.