Screening efficacy of erythroferrone and hepcidin in identifying thalassemia with iron-deficiency anemia among pregnant women.

Abstract

This study investigated the prevalence of Thalassemia (Thal) gene in pregnant women in the Quanzhou area, China. And explored the clinical application value of Erythroferrone (ERFE) and Hepcidin in screening pregnant women with Thal complicated by Iron-deficiency anemia (IDA, defined as serum ferritin (SF) < 20 μg/L). From January 2020 to December 2022, the detection rate of Thal in suspected Thal populations was 35.9%, with 256 pregnant women having Thal, and 11.3% of them also had IDA. From April 2023 to September 2024, 50 pregnant women with simple IDA and 54 with Thal complicated by IDA were selected. Blood samples were collected to detect ERFE, Hepcidin, and other indicators. Binary logistic regression analysis showed that ERFE, Hepcidin, MCH, and SF had a significant impact on Thal screening. The combined detection of these four indicators had the highest AUC at 0.916 (sensitivity 92.0%, specificity 81.5%). The study concluded that pregnant women with Thal are at risk of developing IDA, and routine screening for Thal complicated by IDA is prone to miss cases. ERFE and Hepcidin have higher screening value than MCH and SF, and the combined detection of the four indicators provides high diagnostic efficacy in distinguishing simple IDA from Thal complicated by IDA.