摘要
Abstract
Objective To comprehensively understand the positive rate,mutation types,distribution characteristics,gender differences and hematology characteristics of thalassemia patients in the population of Xianning City through descriptive research.Methods A total of 3105 patients who underwent gene testing for thalassemia in our outpatient and inpatient clinics at our hospital were collected.EDTA anticoagulated blood was collected from all the sample population included in the study for routine blood tests.PCR-reverse dot hybridization was used to detect α and β thalassemia genes,and the sample genotype was determined by color development.Results Among the 3105 samples,223 patients were diagnosed with thalassemia by genetic testing for thalasse-mia,with a positive detection rate of 7.18%.Among them,32 were males and 191 were females,with no significant difference in gender distribution(χ2=0.189,P=0.663).Among the confirmed patients,125 cases were positive for β-thalassemia gene,ac-counting for 56.05%;95 cases were positive for β-thalassemia gene,accounting for 42.60%.Only 3 cases were positive for αβ-thalassemia gene,accounting for 1.35%.A total of 8 genotypes of α-thalassemia were detected in this study,the top ranked geno-type is-α3.7/αα,--SEA/αα and α4.2/αα,accounting for45.60%,37.60%,and9.60%respectivelyandaccounting for92.80%of all α-thalassemia gene carriers.A total of 11 genotypes of β-thalassemia were detected,with the top ranking being β654/βN,β41-42/βN and β17/βN,accounting for 43.16%,28.43%,and 9.47%respectively.Three cases of αβ-compound poverty were detectedwith genotypes as follows:-α3.7/αα&β41-42βN,--SEA/αα&β41-42/βN,-α4.2/αα&βIVS-Ⅱ-654/βN.The relevant he-matological indicators including hemoglobin(Hb),mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH),mean corpuscular hemoglobin concentration(MCHC)were compared among the normal group,α-thalassemia group,and β-thalassemia group,and the differences were statistically significant(P＜0.05).Conclusion The positive detection rate and genotype of thalasse-mia in Xianning City are different from other areas in Hubei Province.Detecting of thalassemia genes can help improve the prevention and control of thalassemia in Xianning and guide eugenics and postnatal care.In addition,the red blood cell-related parameters in routine blood tests are clinically significant for the screening of thalassemia.关键词
地中海贫血/基因突变/血液学参数Key words
Thalassemia/Genetic mutation/Hematology parameters分类
医药卫生
