Clinical Manifestations of Hereditary spherocytosis

Hereditary spherocytosis may be a cause of hemolytic disease in the newborn and may present as anemia and hyperbilirubinemia sufficiently severe to require phototherapy or exchange transfusions. Hemolysis may be more prominent in the newborn because hemoglobin F binds 2,3-diphosphoglycerate poorly, and the increased level of free 2,3-diphosphoglycerate destabilizes spectrin-actin-protein 4.1 interactions in the RBC membrane .

The severity of symptoms in infants and children is variable. Some children remain asymptomatic into adulthood, but others may have severe anemia, with pallor, jaundice, fatigue, and exercise intolerance. Severe cases may be marked by expansion of the diploë of the skull and the medullary region of other bones, but to a lesser extent than in thalassemia major.

 After infancy, the spleen is usually enlarged, and pigmentary (bilirubin) gallstones may form as early as age 4–5 yr. At least 50% of unsplenectomized patients ultimately form gallstones, although they may be asymptomatic. Because of the high RBC turnover and heightened erythroid marrow activity, children with hereditary spherocytosis are susceptible to aplastic crisis, primarily as a result of parvovirus infection, and to hypoplastic crises associated with various other infections .

The erythroid marrow failure may result rapidly in profound anemia (hematocrit <10%), high-output heart failure, hypoxia, cardiovascular collapse, and death. White blood cell and platelet counts may also fall .