In Hereditary spherocytosis
Hereditary spherocytosis is not hemoglobinopathy. Hemoglobinopathy is sickle cell anemia and thalassemia. Hereditary spherocytosis is enzymopathy (G6PD enzyme deficiency).
It is caused mutation in ANK1, EPB42, SLC4A1, SPTA1, and SPTB genes. It is more commonly transmitted as an autosomal dominant rarely autosomal recessive.
The spherocytosis is caused by mutations in proteins that make up the membrane skeleton of the erythrocyte, which normally maintains the shape and flexibility of the red cell membrane. Due to decreased flexibility RBC gets trapped in spleen and gets lysed. so splenomegaly happens.
Note Auto splenectomy occurs in Sickle cell anemia
Thes have a deficiency of glucose-6-phosphate dehydrogenase (G6PD), which catalyzes the initial step in the oxidation of glucose via the hexose monophosphate pathway. This pathway generates NADPH, which is needed for the maintenance of normal red cell fragility. Severe G6PD deficiency also inhibits the killing of bacteria by granulocytes and predisposes to severe infections. (ref Ganong)
Symptoms and Signs
Increased red cell osmotic fragility, Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Hypercoagulability, and prone to infections.
splenectomy, red cell transfusions, folic acid supplementation, and/or cholecystectomy.