Gene type study of alpha-thalassaemia in Chongqing / 重庆医科大学学报

ABSTRACT

Objectives:To study the distribution status,clinical manifestations and laboratory test characteristics of alpha-thalassaemia gene type in the city of ChongQing to approach the importance of genetic diagnosis for alpha-thalassaemia,and the significance of thia diagnosis for antenatal screening and prenatal diagnosis to promote the survival quality of human being.Methods:This study was performed in the Children's Hospital of Chongqing Medical University.One hundred and three alpha -thalassaemia patients were involved in this study.They had taken the tests of serum iron(SI),total iron binding capacity(TIBC),transferrin saturation(TS),hemoglobin(Hb)electrophoresis and genetic examination.Retrospective study and prospective study were performed with the results.Results:(1)A total of 72 patients underwent SI,TIBC and TS,and 55.56 %(40/72) patients had SI decreased,TIBC increased and TS decreased.(2) 92 serum samples from these patients had Hb electrophoresis,in which 31.52%(29/92) presented fast band.(3) In this study,there were 82.52%(85/103) deletional alpha-thalassaemia and 17.48%(18/103) non-deletional alpha-thalassaemia.(4) In 85 deletional alpha-thalassaemia,alpha0-thalassaemia was more than alpha+-thalassaemia.Conclusion:(1) Deletion form is the main form of ? thalassaemia in ChongQing.(2) alpha0-thalassaemia is less than alpha+-thalassaemia.(3) Genetic diagnosis is the gold standard for this disease.(4) It should be emphasized that antenatal screening and prenatal diagnosis are important for better lives of human beings.(5) Alpha-thalassaemia can affiliate nutritional iron deficiency anemia(NIDA).