Analysis of clinical parameters of different types of α-thalassemia children in Hainan region, China

Background Thalassemia, a hereditary hemoglobinopathy characterized by impaired hemoglobin production, results in the premature destruction of erythrocytes and consequent anemia. However, the distinct hematological parameters and phenotypic expressions associated with different α-thalassemia genotypes in the pediatric population remain inadequately characterized. Therefore, this study was designed to perform a comparative analysis of clinical parameters between pediatric patients with α-thalassemia and healthy controls, to elucidate genotype-specific disease manifestations, and to inform optimized management strategies. Methods This retrospective cross-sectional study enrolled 160 children with genetically confirmed α-thalassemia and 105 healthy controls in Hainan. Participants were categorized into silent carrier, mild, Hb H disease, and control groups. Comprehensive assessments included hematological parameters, biochemical profiles, coagulation function, growth Z -scores, and serum ferritin. Group comparisons were performed across genotypes and age strata (1–5, 6–11, 12–18 years) using appropriate statistical methods. Results Children diagnosed with Hb H disease exhibited the most severe hematological impairments, including growth retardation, elevated bilirubin levels, increased ferritin concentrations, and altered coagulation parameters. Among the genotypes studied, non-deletional types (-- SEA /α QS α, -- SEA /α CS α) demonstrated the most pronounced deficits. Growth Z -scores, encompassing weight-for-age (WAZ), height-for-age (HAZ), and body mass index-for-age (BAZ), were significantly reduced in the Hb H disease cohort, with deterioration observed as age increased. Notably, even silent carriers of the disease exhibited developmental delays during later childhood. Furthermore, iron overload and subclinical organ involvement were evident in older children affected by Hb H disease. Conclusions The clinical phenotype of pediatric α-thalassemia is significantly influenced by both genotype and age, with non-deletional Hb H disease presenting the highest risk for systemic complications. These findings emphasize the necessity for genotype-specific monitoring, early nutritional and iron-chelation interventions, and a multidisciplinary follow-up approach to enhance long-term outcomes.