杭州地区儿童地中海贫血基因突变的类型及其与红细胞参数的关系研究OACSTPCD

Objective To explore the types and composition of thalassemia gene variation of children in Hangzhou and analyze its correlation with erythrocyte parameters.Methods From September 2019 to June 2023,535 children who underwent thalassemia gene testing in Hangzhou Children's Hospital were selected as the retrospective research subjects to analyze the type and composition of thalassemia gene variation in local children.Healthy children(normal control group)who underwent physical examination during the same period were selected for routine blood test,Hb electrophoresis[HbA2,HbA,and fetal hemoglobin(HbF)],and reticulocyte test to analyze the differences between the two groups in thalassemia gene mutation types and erythrocyte parameters[hematocrit(HCT),mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH)and mean corpuscular hemoglobin concentration(MCHC),and red blood cell volume distribution width(RDW)].Results Among the 535 children who underwent thalassemia gene testing,319 were confirmed as carriers of thalassemia gene mutation,with a detection rate of 59.63％,including 145 cases of α-thalassemia,167 cases of β-thalassemia,7 cases of αβ-complex type thalassemia.Compared with the normal control group,the average levels of RBC and RDW in the α-thalassemia and β-thalassemia groups were significantly higher,while the average levels of Hb,HCT,MCV,MCH,and MCHC were significantly lower(all P＜0.01).In addition,when comparing with the normal control group,the HbA2 and percentages of reticulocytes in α-thalassemia group were significantly decreased,while in β-thalassemia group,HbA2,HbF,and the percentages of reticulocytes were significantly increased,and HbA was significantly decreased,with statistical significance(all P＜0.01).There were statistically significant differences in Hb,HCT,and RDW among the four common genotypes(αα/--SEA,βCDs41-42/β,βIVS-Ⅱ-654/β,βCD17/β)in this test(all P＜0.05).Conclusion The genotypes of children with thalassemia in Hangzhou are diverse.α-thalassemia is mainly characterized by--SEA,while β-thalassemia is mainly characterized by IVS-Ⅱ-654 and CDs41-42.Different types of anemia have significant differences in erythrocyte parameters.Blood routine tests,reticulocyte count,and Hb electrophoresis have significant clinical value for screening and diagnosing early thalassemia.