Key Takeaways

Hereditary spherocytosis (HS) belongs to the group of congenital hemolytic anemias resulting from plasma membrane protein deficiency.

The clinical presentation of HS is highly variable and is classified according to clinical severity (mild, moderate and severe) based on hemoglobin (Hb), reticulocyte % and serum bilirubin levels.

Symptoms are primarily related to anemia, though complications of hemolysis may occur, including splenomegaly, pigment gallstones, and iron overload.

Diagnosis of HS is suspected in a patient with Coombs-negative (non-immune) hemolytic anemia, presence of  spherocytes on the peripheral blood smear, increased mean corpuscular hemoglobin concentration (MCHC) and a positive family history of HS.

Diagnosis of HS is confirmed using an EMA binding assay or osmotic fragility test.

Treatment is supportive and includes folic acid supplements, red cell transfusion, splenectomy (in severe cases) and iron chelation.