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

Abstract excerpt

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...

Topics

• Child, Preschool
• Humans
• Male
• alpha-Globins
• Mutation
• Spectrin
• Spherocytosis, Hereditary