1. Xác định người lành mang biến thể gen gây bệnh β-thalassemia bằng kỹ thuật giải trình tự gen sanger và kỹ thuật MLPA

Abstract

Thalassemia is the most common genetic disease in the world. The average thalassemia carrier rate of all ethnic groups in Vietnam is estimated at 13.8%. β-thalassemia major patients may express severe hemolytic anemia, affecting their viability and quality of life. Screening and early diagnosis of patients and gene carriers in the community play an important role in limiting the ratio of children born with β-thalassemia. Many molecular techniques have been developed to detect β-thalassemia pathogenic variants, of which DNA sequencing and MLPA are the gold standards for identifying point mutations and identifying deletion/duplication mutations, respectively. With the aim of detecting HBB gene pathogenic variants in healthy carriers by Sanger sequencing and MLPA techniques, the study was conducted on 102 cases of hypochromic microcytic anemia suspected of carrying the pathogenic variants  in the β-globin gene and iron deficiency anemia was excluded. The results identified 102 cases have mutations in the HBB gene, of which 97% were point mutations and 3% were deletion mutations. CD26 accounts for 39.2%, CD17 accounts for 22.5% and CD41/42 accounts for 21.6%.