Article Highlight | 29-Jun-2025

Developments in Chinese hemophilia care

Shanghai Jiao Tong University Journal Center

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.

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