[Analysis on the Genotype of 5018 Cases of Thalassemia in Hunan Area].

OBJECTIVE:To investigate the type and distritution of thalassemia gene mutaitons in Hunan area, so as to provide evidence for prenatal screening, diagnosis and reduction of birth defects. METHODS:A total of 5018 cases from Maternal and Children Health Hospital of Hunan from June 2017 to Dec 2018 were undergone thalassemia gene mutation analysis. The reverse dot blot hydridization was used to detect 6 kinds of genotypes of α-thalassemia and 17 kinds of point mutations of β-thalassemia, and the detected data were analyzed statistically. RESULTS:889 cases (55.9%) of α-thalassemia carriers were found, including 385 cases of silent α-thalassemia, 488 cases of α-thalassemia trait, 16 cases of Hb H disease. -- SEACONCLUSION:The constituent ratio of thalassemia gene mutations in Hunan has regional characteristics, -- SEA