[Application Analysis of Screening for Thalassemia in the Population of Childbearing Age in Quanzhou]

Objective: To analyze the application value of MCV, MCH and HbA₂ in screening for thalassemia in the population of childbearing age in Quanzhou area, and to determine the optimal screening cut-off value of relevant indicators in this area.

Methods: 2 725 couples of childbearing age were included in the study and underwent routine blood test, capillary hemoglobin electrophoresis, and α and β thalassemia gene test. Statistical methods were used to analyze the distribution of thalassemia genotypes, and compare the performance of MCV, MCH, and HbA₂ in screening various types of thalassemia. According to the ROC curve, the best cut-off values of MCV, MCH and HbA₂ in screening for thalassemia in this area were determined.

Results: In this study, a total of 1 801 thalassemia carriers were detected, including 1 341 cases of α-thalassemia, 420 cases of β-thalassemia, and 40 cases of αβ compound thalassemia. The most common genotypes of α-thalassemia and β-thalassemia were -- ^SEA/αα and β⁶⁵⁴ /β^N , respectively. ROC curves were drawn to evaluate the performance of MCV, MCH and HbA₂ in screening for α-thalassemia, mild β-thalassemia, αβ compound thalassemia, silent α-thalassemia, mild α-thalassemia, and intermediate α-thalassemia. The maximum areas under the curves (AUC) were 0.747, 0.865, 0.724, 0.486, 0.812, 0.841; 0.747, 0.846, 0.703, 0.479, 0.796, 0.903; 0.613, 0.980, 0.909, 0.465, 0.674, 0.996, respectively; and the best cut-off values corresponding to the three screening indicators were 76.15fl, 71.95fl, 77.35fl, 86.15fl, 75.41fl, 61.15fl; 24.35pg, 21.51pg, 25.45pg, 28.65pg, 24.01pg, 20.51pg; 2.45%, 3.05%, 3.55%, 3.25%, 2.45%, 1.65%, respectively.

Conclusion: The levels of MCV, MCH and HbA₂ are correlated with the phenotype of thalassemia, and the detection of these indicators is of great significance for the prevention and control of thalassaemia.