Clinical, haematological, and radiological correlates of craniofacial deformities in beta thalassemia major—a comparative hospital-based cross-sectional study

Abstract Purpose β-thalassemia major, a severe genetic disorder affecting globin synthesis, often presents with marked orofacial deformities. This study evaluated the orofacial, medical, haematological, and radiographic characteristics of patients with β-thalassemia major. Methods This monocentric cross-sectional study evaluated 150 transfusion-dependent β-thalassemia major patients (aged 6–40 years) and 150 age- and sex-matched controls. Clinical assessment focused on craniofacial features; haematological parameters included haemoglobin, RBC/WBC, platelet count, MCH, MCV, and serum ferritin. Radiographic evaluation assessed skeletal base, frontal bone thickness, mandibular cortex, maxillary sinus, inferior alveolar canal, lamina dura, marrow, and diploic space. Correlations between craniofacial deformity (CFD) and haematological/radiological variables were analyzed using SPSS v22, with p < 0.05 considered significant. Results CFD was present in 83% of thalassemia patients, while 17% showed no deformity. Patients exhibited severe anaemia (mean Hb, 6.57 ± 1.53 g/dL), low RBC count, and significantly elevated serum ferritin (4120.31 ± 2036.34 ng/mL). Radiographically, 92.7% had a Class II skeletal base; other common findings included thickened frontal bone (93.3%), maxillary sinus hypoplasia (49.3%), and widened diploic space (81.3%). Most correlations between CFD and haematological/radiological parameters were weak and non-significant, except for significant associations with hair-on-end appearance, granular bone pattern, icterus, and lip incompetency. Conclusions Beta-thalassemia patients exhibited distinct craniofacial and radiological changes strongly associated with chronic anaemia and marrow hyperplasia. Early identification of these features through clinical and radiographic evaluation is essential for timely intervention and improved patient outcomes.