Genotype-Specific Hematologic Signatures Across α-Globin Defect Categories in α-Thalassemia

group showed a microcytic erythrocytosis pattern, whereas the compound/HbH-related group showed the most pronounced hematologic disturbance. In conclusion, distinct α-globin genotype groups and defect categories are associated with markedly different hematologic phenotypes. Although the molecular mechanisms underlying these differences remain incompletely understood, deletional burden and genotype complexity appear to have clinically meaningful effects on red cell indices. Integrating molecular genotyping with hematologic profiling may therefore improve diagnostic interpretation and genotype-phenotype assessment in α-thalassemia.