Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c

ABSTRACT Background The current investigation aims to analyze the occurrence of thalassemia in patients who participated in hemoglobin A1c (HbA1c) testing in clinical laboratory showing high hemoglobin F (HbF) level (≥ 1.5%) or abnormal Hb peak and predict the main influence factors by using different statistical models. Methods The current investigation is a single‐center retrospective cohort study. HbA1c concentration was detected by using TOSOH HLC‐723G8 glycated hemoglobin analyzer. SNaPshot SNP (Single Nucleotide Polymorphism) typing and AccuCopy technology were employed to detect mutations in thalassemia‐related pathogenic genes. Results A total of 126 patients endured high HbF levels or abnormal Hb peak during HbA1c detection, and 66.7% of subjects (n = 84) showed thalassemia mutations. Three heterozygosity mutations, including c.52A>T (p.K18*), c.‐78A>G, and c.126_129delCTTT(p.F42Lfs*19) present in HBB gene, were also identified. ‐‐SEA/αα mutation demonstrated the youngest ages (p