Identification of a novel hereditary spherocytosis gene mutation in a Chinese child with α-globin gene triplication

Hereditary spherocytosis (HS) and thalassemia are both common hemolytic anemias, yet their pathogenesis is different. HS arises from erythrocyte membrane abnormalities, while thalassemia stems from defective hemoglobin synthesis. They both typically manifest in childhood, and diagnosis is often straightforward based on typical clinical manifestations and laboratory findings. Here, we report a unique case of co-occurring hematological disorders: HS and α-globin gene triplication, in a 2-year-old Chinese boy. The child had a history of longtime hemolytic disease and carried a novel heterozygous mutation which was not detected in either parent. The previously undescribed c.149-1G>A splicing mutation is speculated to affect pre-mRNA splicing. The coexistence of these conditions, along with a novel heterozygous mutation in the SPTB gene, highlights the complexity of genetic contributions to hemolytic anemias and underscores the importance of genetic testing in diagnosing and understanding these disorders.