BEIJING: Chinese scientists have identified a new gene that may lead to a rare, life-threatening blood disorder called hemophagocytic lymphohistiocytosis (HLH).
The disease usually occurs in early childhood and stem cell transplantation is the only definitive treatment. A previous study found 12 risk genes, but they could explain only a small fraction of his HLH cases.
New research, now published in the Journal of Hematology & Oncology, could help physicians screen high-risk populations for genetic disorders, improving early diagnosis and treatment rates.
Using whole-genome sequencing technology, researchers from the Beijing Genomics Institute of the Chinese Academy of Sciences and the Beijing Children’s Hospital of the Capital Medical University have identified a new gene called NBAS in Chinese patients with HLH.
In this study of 237 cases, the estimated frequency of NBAS variants in pediatric patients was 2.11%, making it the second most frequently mutated gene. The first, called PRF1, has a mutation rate of 3.8%.
The study is the latest example of China’s enhanced research efforts to help millions of rare disease patients in China.