Scientists have identified a new gene that leads to a rare blood disease, Journal of Hematology and Oncology study shows

The condition most often manifests itself in infancy or early childhood, and the only treatment that has proven to be successful is stem cell transplantation. Initial research has uncovered a total of 12 unique genes, but these genes can only account for a limited proportion of HLH occurrences.

It is possible that the new research, the findings of which were recently published in the Journal of Hematology and Oncology, will assist medical professionals in screening for high-risk population categories for this genetic disease, thereby increasing the percentage of patients who are diagnosed and treated early on.

Researchers at the Beijing Institute of Genomics, which is part of the Chinese Academy of Sciences, worked in conjunction with those at the Beijing Children’s Hospital of the Main Institute of Medicine to identify the novel NBAS gene in Chinese patients who were diagnosed with HLH. This was accomplished through the utilization of targeted genome sequencing technology.

The findings of the study, which included a total of 237 cases, indicated that the estimated frequency of the NBAS variant among affected children was 2.11 percent, which placed NBAS in the position of the gene that is altered the second most frequently. The initial strain, which has been given the name PF1, exhibits a mutation rate of 3.8 percent.

According to Xinhua, the research is the best illustration of China’s heightened efforts to save the lives of millions of patients suffering from uncommon diseases in the country.

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