Value of capillary electrophoresis with HbA+HbA2/HbA preliminary screening combined with RDW hematological index screening in the diagnosis of neonatal β-thalassemia
Value of capillary electrophoresis with HbA+HbA2/HbA preliminary screening combined with RDW hematological index screening in the diagnosis of neonatal β-thalassemia
Objective To evaluate the diagnostic value of HbA+HbA2/HbA and RDW screening by capillary electrophoresis in the diagnosis of neonatal β-thalassemia.Methods A total of 2009 newborns delivered in our hospital from January 2021 to Decem-ber 2023 were selected and screened for β-thalassemia by capillary electrophoresis,hematological indicators and genetic examination,and the distribution of β-thalassemia gene types was described.The capillary electrophoresis HbA,HbA2/HbA and hematological inde-xes were compared between the non-β-thalassemia group and the β-thalassemia group,and the efficacy of capillary electrophoresis HbA+HbA2HbA preliminary screening combined with hematological indexes RDW diagnosis for neonatal β-thalassemia was analyzed.Results There were 12 cases of β-thalassemia positive neonates with the overall detection rate of 0.60％,11 cases(91.67％)of simple heterozygous mutations in β-thalassemia,and 1 case(8.33％)of complex heterozygous mutations in β-thalassemia,which were common in β(CD41-42)and β(IVS-Ⅱ-654)mutations.The HbA index of newborns in β-thalassemia group was significantly lower than that in non-β-thalassemia group(P＜0.05),and the HbA2/HbA index of newborns in non-β-thalassemia group was(2.01±0.10)％,while the newborns in non-β-thalassemia group had no HbA2.There were no significant differences in the levels of MCV,MCH,MCHC,RBC and Hb indexes between the non-β-thalassemia group and the β-thalassemia group(P＞0.05),while the RDW indexes in the β-thalassemia group were significantly higher than those in the non-β-thalassemia group(P＜0.05).The high-est positive predictive value,negative predictive value,sensitivity and specificity of β-thalassemia were 90.08％,88.34％,89.74％,86.23％by capillary electrophoresis with HbA+HbA2/HbA and combined detection,respectively.Conclusion Capillary electro-phoresis HbA+HbA2/HbA preliminary screening combined with hematological indicators(RDW)has high efficiency in screening newborn β-thalassemia,which makes up for the shortcomings of high false positive rate in capillary electrophoresis HbA+HbA2/HbA screening,and can be popularized in clinical practice.
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