Application of Erythrocyte Indices for Screening Thalassemia Trait in Jiujiang prefecture

Abstract

Background: This study aimed to analyse the application efficiency of 11 erythrocyte indices in Jiujiang Prefecture.

Methods: A total of 2379 patients with suspected thalassemia were enrolled in Jiujiang Maternal and Child Health Hospital. Thalassemia genes were detected by reverse dot blot hybridization. A receiver operating characteristic(ROC) curve was used to analyse and calculate the sensitivity, specificity, Youden's index(YI), positive likelihood ratio(+LR) , negative likelihood ratio(-LR) and area under the curve (AUC) of the erythrocyte indices.

Results: 1) Thalassemia carriers in Jiujiang Prefecture mainly had α- thalassemia and β-thalassemia, with a detection rate of 11.60%. Therefore, --^SEA/αα(50.35%) and -α^3.7/αα(39.86%%) predominated in  α-thalassemia, while the  most common genotypes of β-thalassemia were β^IVS-II-654/β^N, β^CD41-42/β^N, and β^CD17/β^N, accounting for 64.29%,15.87% and 9.54%, respectively. 2) Of the 11 erythrocyte indices, Green and King (G&K) exhibited the highest diagnostic efficiency, with an AUC above 90%, high sensitivity and good specificity, followed by England and Fraser (E&F).

Conclusion: 1) Analysis of thalassemia genotypes can provide a theoretical basis for thalassemia screening, prenatal diagnosis and genetic counselling. 2) Compared with other erythrocyte indices, Green and King (G&K) showed higher application value for thalassemia screening, with the largest AUC above 90%.