Developments in Chinese hemophilia care
image: Relationship of bleeding severity to clotting factor level
Credit: Feng Xue, Jing Dai, Li-xia Chen, Wei Liu, Hou-qiang Zhang, Run-hui Wu, Jing Sun, Xin-sheng Zhang, Jing-sheng Wu, Yong-qiang Zhao, Xue-feng Wang, Ren-chi Yang.
Core Focus: The article reviews China's advancements in diagnosing and treating hemophilia, a rare X-linked bleeding disorder, with emphasis on epidemiology, genetic testing, and innovative therapies like gene editing and non-factor treatments.
Key Points
1. Epidemiology & Challenges
Prevalence in China (~3/100,000) is lower than global estimates, suggesting underdiagnosis.
Delayed diagnosis (30% of cases) and limited access to prophylaxis remain hurdles.
2. Diagnostic Innovations
Lab Tests: APTT screening + factor activity assays (FVIII/FIX) are standard. Inhibitor detection (e.g., Bethesda method) is critical for treatment planning.
Genetic Tools: Next-gen sequencing (NGS) and MLPA identify mutations (e.g., F8 intron inversions). Non-invasive prenatal testing (NIPD) is emerging for carrier families.
3. Therapeutic Advances
Replacement Therapy: Recombinant factor concentrates (e.g., SCT800, a B-domain-deleted FVIII) are first-line; prophylaxis reduces joint damage.
Non-Factor Drugs: Emicizumab (bispecific antibody) cuts bleeding episodes by 64% in inhibitor patients.
Gene Therapy: Early trials (e.g., BBM-H901 for hemophilia B) show sustained factor levels, with some patients discontinuing traditional therapy.
4. Surgical & Supportive Care: Joint replacement guidelines for hemophilic arthropathy stress interdisciplinary coordination.
5. Future Directions
1）Expanding PK-guided prophylaxis and gene therapy trials.
2）Addressing cost barriers and regional disparities in care.
Conclusion: China has made significant strides in hemophilia management through registry systems, guideline updates, and novel therapies. Continued efforts aim to achieve equitable, high-quality care nationwide.
Importance: China’s progress—from registry systems to cutting-edge therapies—mirrors global trends but highlights unique challenges (e.g., scaling rural access). The integration of genetic diagnostics and novel treatments like gene editing could transform outcomes for hemophilia patients.