Analysis on result of genetic screen and gene types of 10854 cases with thalassemia / 重庆医学

ABSTRACT

Objective To investigate the gene carrying rate,gene type and composition ratio of thalassemia among pre-pregnant population in Chongqing area.Methods A total of 1054 people were enrolled in the hospital from April 2014 to March 2016 for thalassemia screening.The content of screening included mean corpuscular volume (MCV),mean corpuscular hemoglobin (MCH) and hemoglobin electrophoresis.Thalassemia gene was examined in people with any abnormal term of screening result.Results In 10854 cases,1117 cases showed positive in thalassemia primary screening,and the positive rate was 10.29％.458 cases were tested positive of thalassemia gene,the carrying rate of thalassemia was 4.21％.In which,253 cases of pure a-thalassemia were tested.The carrying rate of α-thalassemia was 2.33％.The most common kind in α-thalassemia was--SEA whose constituent ratio were 52.17 ％.197 cases of pure β-thalassemia were tested,the carrying rate of β-thalassemia was 1.81％.The most common kind in β-thalassemia was CD17 (A→T),whose constituent ratio were 31.47 ％.11 cases were diagnosed with αβ-thalassemia.Conclusion Chongqing is high-prevalence area of thalassemia.It is important to conduct thalassemia genetic screen before pregnancy which plays a vital role in improving population quality and achieving prepotency.