Analysis on genotypes of thalassemia gene mutation detection result in pregnant women with decreased mean corpuscular hemoglobin

Objective To observe thalassemia gene mutation in pregnant women with decreased mean corpuscular hemoglobin of WuMing region in Guangxi province,and to provide the evidence of study to clinical diagnosis and therapy of the thalassemia pregnant women in the area.Methods The haemocytes of 641 pregnant women in Wuming region in Guangxi province were detected by using Sysmex 2000i cytoanalyzer.475 pregnant women found with decreased mean corpuscular hemoglobin were detected their types of thalassemia gene mutation by reverse dot blot(RDB) and investigated their thalassemia gene mutation.Results Among 475 pregnant women with decreased mean corpuscular hemoglobin,428 were found thalassemia,including 319 cases of β thalassemia mutation and 116 cases of α thalassemia mutation.In the β thalassemia mutation,10 types mutation were as follow:654M,17M,28M,27/28M,29M,41-42M,βEM,43M,71-72M,IVS-I-1M,and the types of α thalassemia mutation present αCS、αQS and αWS.The top two genotypes of β thalassemia mutation were 41-42M and 17M,the carrier rates of β thalassemia mutation were 44.83%,30.12% in turn.The major types of α thalassemia mutation were αCS and αWS,accounting for 55.93%,36.21%;18 cases were found α-thalassemia and β-thalassemia,most of them presenting αWS combined 41-42M,17M.Conclusion 41M-42M and 17M are the major genotypes of thalassemia gene mutation in pregnant women with decreased mean corpuscular hemoglobin in Wuing area in Guangxi province,so region is the factor that should be considered in thalassemia prevention and cure.