Report on the diagnosis and treatment of hemophilia in China (Version 2024)

Hemophilia is a hemorrhagic disease caused by a lack of clotting factors due to genetic mutations, and is a representative of rare diseases. The prevalence rate of hemophilia is about 2.73∼3.09/100,000 in China, and the absolute number of patients with hemophilia is large given a huge population base. As a part of the Healthy China initiative, prevention and treatment of hemophilia has attracted much attention in the country. With comprehensive promotion of the construction of the grading diagnosis and treatment system for hemophilia, China requires hospitals applying for comprehensive management centers and diagnosis and treatment centers for hemophilia to be able to independently carry out screening and confirming tests related to hemophilia diagnosis. Identifying the type of pathogenic mutation through genetic diagnosis is of great value for assessing the risk of clinical bleeding in hemophilia patients, studying the induction mechanism of clotting factor inhibitors, conducting gene therapy and promoting eugenics. The mutation types of F8 gene are similar in Chinese patients to international data reports. The F9 gene mutations are mainly single-base point mutations, with no mutation hotspots found in Chinese patients. Historically in China, the treatment of hemophilia has gone through insufficient on-demand treatment and exploration of low-dose prophylaxis, and currently, it is moving towards high-dose prophylaxis with better efficacy and individualized prophylaxis, achieving more ideal treatment effects, reducing patient inconvenience and discomfort, and avoiding high treatment costs as much as possible. Based on related registration data and literature, this report comprehensively summarizes the progress and points out the shortcomings in clinical research and medical care as regards hemophilia in China, in the hope of helping further improve the diagnosis and treatment of hemophilia in the country.