Chinese scientists have identified a new gene whose deficiency can lead to hemophagocytic lymphohistiocytosis (HLH), a rare and life-threatening blood disease, Xinhua news agency reported.
The disease usually occurs in early childhood, and the only effective therapy is a stem cell transplant. Twelve risk genes have been identified in earlier studies, but they can explain only a small number of HLH cases.
The new study, whose findings were published in the Journal of Hematology & Oncology, may help doctors screen for high-risk populations for this genetic disease and increase rates of early diagnosis and treatment.
Using whole-genome sequencing technology, researchers from the Beijing Institute of Genomics, within the Chinese Academy of Sciences and in collaboration with the Beijing Children's Hospital of the National Medical University, have identified a new NBAS gene in Chinese patients with HLH.
According to the results of the study, which included 237 cases, the estimated frequency of NBAS variants among affected children was 2,11 percent, which makes NBAS the second most frequently mutated gene. The first, named PF1, has a mutation rate of 3,8 percent.
The research is the latest example of China's stepped-up research efforts to save millions of rare disease patients in the country, according to Xinhua.
Bonus video:
