Report on diagnosis and treatment of hemophilia in China 2023

Abstract

In recent years, China attaches great importance to the prevention and treatment of rare diseases. As one of the representative diseases of rare diseases, management of Hemophilia has made great progress in China. From 1986 to 1989, the National Hemophilia Cooperative Group conducted China's hemophilia epidemiological survey according to the unified method and standard, and the results showed that the prevalence of hemophilia was 2.73/100 000, and there was no statistical difference in prevalence among different regions. In 2014, Meta-analysis showed that the prevalence of hemophilia in China was 2.8/100 000, and in 2018, based on the data of the urban population of Tianjin, the local prevalence of hemophilia was estimated to be 3.09/100 000. With the comprehensive promotion of the construction of hemophilia hierarchical diagnosis and treatment system, China requires that hospitals applying for hemophilia comprehensive management centers and diagnosis and treatment centers must be able to independently carry out screening tests and confirmatory tests related to hemophilia diagnosis. For diagnosis of hemophilia, most laboratories in China usually adopt the one-stage method (coagulation method) based on the activated partial thromboplastin time (APTT) for the determination of coagulation factor activity, but it should be noted that more than two activity detection methods are required for some special types of hemophilia. The types of each mutation in the F8 gene of patients in China are similar to those reported in international data, and the mutations in the F9 gene of our patients are mainly single base point mutations, with no mutation hotspots found. As of June 2023, a total of more than 40 000 cases with inherited bleeding disorders registered in 261 centers in China (including hemophilia), through the National Hemophilia Registration System. The history of hemophilia treatment in China has been explored through inadequate on-demand and low-dose prophylaxis, and is now moving towards higher-dose prophylaxis and individualized prophylaxis with higher efficacy. Based on the above registry data and literature, this report comprehensively summarizes the progress of basic and clinical research and medical protection in the field of hemophilia in China, and analyzes the shortcomings for further improvement of hemophilia diagnosis and treatment in China.

Keywords

• |hemophilia|prevalence|hereditary hemorrhagic disease|joint deformity|coagulant factor inhibitor