The thalassemia screening analysis of 2 650 cases of childbearing women / 重庆医学

ABSTRACT

Objective To investigate the incidence of poverty ,population carrying rate and its genetic type through the thalasse‐mia screening analysis of 2 650 cases of childbearing women .Methods Hematologic examination and hemoglobin electrophoresis were applied in people who were laboratory tested the crowd ,screening suspected people ,then use the genetic analysis confirm the diagnoses .Results Preliminary screening of the 536 cases which were suspected the thalassemia (or gene carriers) ,hematologic ex‐amination showed that the red blood cells ,reticulocyte counts in the cases were significantly higher than those in the controls ;and hemoglobin ,mean corpuscular volume (MCV)and mean corpuscular hemoglobin (MCH) were significantly lower .Hemoglobin elec‐trophoresis test showed that in 512 abnormal cases ,68 cases were diagnosed as α thalassemia and 438 cases were β thalassemia(506 cases in total ,accounting for 19 .09% of the total number) .In this area ,Southeast Asia(SEA) heterozygotes(‐SEA /αα) ,right hetero‐zygotes(‐α3 .7 /αα) ,left heterozygotes(‐α4 .2 /αα) ,Hb Constant Spring(‐αCS /αα) were common type of α thalassemia ;CD41‐42 hetero‐zygotes ,CD17 heterozygotes ,CD71‐72 heterozygotes and CD28 heterozygotes were common type of β thalassemia .Conclusion In Guangxi ,there was high incidence rate of thalassemia ,thus ,though premarital and prenancy anterior screening ,guide the rational marriage and pregnancy ,and through the crowd to intervene to prevent common human monogenic death and disabling genetic dis‐orders are of great importance for prepotency promotion and population quality improve .