Hereditary Spherocytosis (HS) is an intrinsic red blood cell defect, resulting in hemolytic anemia. The disease is characterized by the presence of spheroid erythrocytes, which have increased osmotic and mechanical fragility. The underlying cause of this condition is the defects in the RBC membrane cytoskeleton. There is a wide amount of clinical variability among patients with this condition, ranging from asymptomatic condition to life threatening anemia. About 65% of affected neonates show some symptoms of the condition. All affected neonates present with neonatal jaundice. Among adults, the common symptoms of HS are anemia, mild pallor, jaundice, and splenomegaly.
Diagnosis is based on clinical symptoms, and includes results of tests such as complete blood count, Coombs' Test, osmotic fragility test, blood smears, and reticulocyte counts. HS is frequently complicated by gallstones, gall-bladder disease, hemochromatosis, and crises.
One of the major modes of treatment from spherocytosis is through splenectomy. This is because the deformed erythrocytes have a tendency to be selectively trapped in the spleen and destroyed. Splenectomy markedly abrogates hemolysis. All affected patients should be routinely assessed for gallstones. Prognosis after splenectomy is good.
Spherocytosis type I is associated with mutations in Ankyrin 1 (ANK1) gene .