Phát hiện đột biến gene PRF1 trên bệnh nhân mắc hội chứng thực bào tế bào máu (HLH): Báo cáo ca bệnh

Haemophagocytic Lymphohistiocytosis - HLH can either occur sporadically in the population (secondary HLH), or can be inherited as the autosomal recessive condition known as Famillial hemophagocytic Iymphohistiocytosis (FHL). PRFl gene mutations on one of the main reasons that causes FHL. Objective: To detect mutations in the PRFl gene in patients suspected FHL syndrome. Subjects and Methods: A Case study. Using sequencing technique to screen mutations in the PRFl gene. Results: patient had the mutation c.1168C T inherited from father and c.1284G A inherited from mother. Conclusion: The sequencing technique is an accurate method, contributing to an accurate diagnosis FHL patients.