Hematological phenotype and genotype analysis of hemoglobin E
Objective To analyze the correlation between hematological phenotype characteristics and genotype distribution in patients with hemoglobin E(HbE),and to provide clinical references for the screening,prevention,and control of thalassemia.Methods Two hundred and seventy-five patients with HbE detected by the Thalassemia Screening Laboratory of Guangdong Women and Children Hospital from January 2016 to December 2022 were retrospectively analyzed,including 108 males and 167 females.They were 2-46 years old.According to the genotypes,the patients were divided into HbE heterozygous(226 cases),HbE homozygous(1 case),HbE/α-thalassemia(40 cases),and HbE/β-thalassemia(8 cases)groups.The blood cell analyzer was used to analyze the red blood cell parameters of hemoglobin(Hb),mean corpuscular volume(MCV),and mean corpuscular hemoglobin(MCH).The capillary electrophoresis was used to analyze the hemoglobin components of HbE,HbA2,and HbF.The red blood cell parameters(Hb,MCV,and MCH)and hemoglobin components(HbE,HbA2,and HbF)of the four groups were analyzed statistically by one-way analysis of variance.Results There were statistical differences in red blood cell parameters(Hb,MCV,and MCH)and hemoglobin components(HbE,HbA2,and HbF)between the 4 groups(F=24.19,39.24,48.28,592.69,33.34 and 980.25;all P＜0.05).The HbE heterozygous group[Hb(129.2±17.4)g/L,MCV(77.8±3.3)fl,and MCH(25.8±1.3)pg]and the HbE heterozygous/α-thalassemia group[Hb(125.3±13.0)g/L,MCV(74.4±7.2)fl,and MCH(24.1±3.0)pg]had the lightest hematological phenotype,while the HbE/β-thalassemia group[Hb(78.0±15.9)g/L,MCV(61.9±8.2)fl,and MCH(18.7±2.5)pg]had the heaviest hematological phenotype.Conclusions Different genotypes of patients with HbE have differences in hematological phenotype;prenatal screening only based on the results of blood cell analysis will lead to a certain proportion of missed diagnosis.
万方数据
维普
