Genotypic Characterization of Thalassemia in Huadu District, Guangzhou, China: A Single-Center Retrospective Study

Thalassemia is associated with high morbidity and mortality. The purpose of this study was to delineate the genetic mutation spectrum of thalassemia in Huadu District, Guangzhou, to provide a basis for prenatal diagnosis and genetic counseling. Between January 2020 and December 2024, 2,428 blood samples from individuals with suspected thalassemia were collected at Huadu District People’s Hospital. α- and β-Thalassemia genotypes were identified using gap-polymerase chain reaction (Gap-PCR) and PCR-reverse dot blot (PCR-RDB). Overall, 1,774 (73.06%) patients tested positive for thalassemia. Of these, 52.37% (929/1,774) had α-thalassemia, 42.00% (745/1,774) had β-thalassemia, and 5.64% (100/1,774) had co-inheritance of α/β-thalassemia. The most frequent α-thalassemia genotype was (--SEA/αα) seen in 62%. β-Thalassemia was dominated by high-frequency mutations, including βCD41-42/βN (270 cases, 36.91%) and βIVS-II-654/βN (26.98%). The most typical combined genotype was --SEA/αα with βCD41-42/βN (18%). The mutation profile in Huadu District aligns with the Southern Chinese thalassemia spectrum but exhibits regional specificity, mirroring the overall epidemiological pattern of Southern China while demonstrating distinct regional mutation clusters. Greater emphasis should be placed on thalassemia screening, genetic counseling, and prenatal diagnosis to improve birth outcomes.