Prevalence and Molecular Characteristics of Hemoglobin Variants in Laibin City, Central Guangxi of Southern China

This study investigated hemoglobin (Hb) variant prevalence and molecular characteristics in Laibin City, Central Guangxi, China. Using capillary electrophoresis (CE), 33,958 individuals from six regions within Laibin area were screened, with hematological parameters analyzed via automated cell counters. Gap-PCR/RDB-PCR identified common alpha/beta-thalassemia mutations, while Sanger sequencing characterized Hb variants. Single-molecule real-time (SMRT) sequencing was performed to identify breakpoints in a sample with a large duplication and to detect multiple mutations in another sample. Multiple ligation-dependent probe amplification (MLPA) was used for duplication validation. Among 231 Hb variant carriers (0.68% prevalence), 18 mutation types were identified: 7 alpha-chain, 6 beta-chain, and 5 delta-chain variants. Hb New York was most frequent (30.3%, 70/231), followed by Hb E (27.3%, 63/231) and Hb Q-Thailand (20.8%, 48/231). Two novel variants-Hb Laibin (HBA2: c.44T>C) and Hb Anti-Lepore Laibin-were discovered, alongside China's first reported Hb Matsue-Oki case. In conclusion, we observed a high carrying rate of Hb variants in Laibin City. Our findings contribute to the increasing number and diverse heterogeneity of Hb variants in Central Guangxi, which should be useful for genetic counseling and the prevention of hemoglobinopathies. The flexible application of a diverse array of molecular detection techniques is essential to avoid missed diagnoses and achieve high diagnostic efficiency.