Screening indices and their cut-off values for full-term neonates carrying β-thalassemia gene / 中国当代儿科杂志

ABSTRACT

OBJECTIVE@#To investigate the screening indices and their cut-off values for full-term neonates carrying β-thalassemia gene.@*METHODS@#A retrospective analysis was performed for the clinical data of 1 193 full-term neonates who underwent β-thalassemia screening (hemoglobin analysis with dried blood spots on neonatal heel blood filter paper and mutation detection of 17 β-globin genes). A multivariate logistic regression analysis was used to investigate the association between screening indices and β-thalassemia gene, and the receiver operating characteristic (ROC) curve was used to analyze the value of screening indices in determining the presence or absence of β-thalassemia gene.@*RESULTS@#Of the 1 193 neonates, 638 carried β-thalassemia gene. Of the 1 193 neonates, 637 (53.39%) had no HbA, among whom 310 carried β-thalassemia gene and 327 did not carry this gene; 556 (46.61%) had HbA, among whom 328 carried β-thalassemia gene and 228 did not carry this gene. As for the neonates without HbA, the β-thalassemia gene group had a significantly lower HbA level and a significantly higher HbF level than the β-thalassemia gene-negative group (P1.4 had the largest AUC in determining the presence or absence of β-thalassemia gene, with a sensitivity of 91.38% and a specificity of 91.89%.@*CONCLUSIONS@#HbA and HbA/HbA ratio are effective indices for screening out full-term neonates carrying β-thalassemia gene.