Hereditary spherocytosis history and symptoms

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

The hereditary spherocytosis is a familial hemolytic disorder with high heterogeneity. Clinical features range from asymptomatic to fulminant hemolytic anemia. History and symptoms of hereditary spherocytosis include: yellowing of skin, fatigue, irritability, weakness, shortness of breath, anemia, hemolysis, thrombocytopenia and hyperbilirubinemia. Pigment gallstones may be found in young children, but incidence of gallstones increases markedly with age, however jaundice is more prominent in newborns.

• Hereditary spherocytosis is a familial hemolytic disorder with marked heterogeneity.^[1][2][3]
• Clinical features range from asymptomatic to fulminant hemolytic anemia.^[4]
• Children diagnosed early in life usually have a severe form of hereditary spherocytosis that results in their early presentation. Jaundice is likely to be most prominent in newborns. The magnitude of hyperbilirubinemia may be such that exchange transfusion is required. Approximately 30-50% of adults with hereditary spherocytosis had a history of jaundice during the first week of life. Recognition of hereditary spherocytosis as a potential cause of neonatal anemia and hyperbilirubinemia and institution of prompt treatment may reduce the risk of bilirubin-induced neurologic dysfunction in these patients.^[5]
• Beyond the neonatal period, jaundice rarely is intense. Icterus is intermittent and may be triggered by fatigue, cold exposure, emotional distress, or pregnancy. An increase in scleral icterus and a darker urine color commonly are observed in children with nonspecific viral infections. Adults who remain undiagnosed usually have a very mild form, and their hereditary spherocytosis remains undetected until challenged by an environmental stressor.
• Gallstones of the pigment type, resulting from excess unconjugated bilirubin in bile, may be found in very young children, but the incidence of gallstones increases markedly with age. In patients with mild hereditary spherocytosis, cholelithiasis may be the first sign of an underlying red cell disorder.

• Symptoms and history of hereditary spherocytosis include:
  • hemolysis
  • anemia
  • jaundice
  • weakness
  • irritability
  • shortness of breath
  • pallor
  • thrombocytopenia
  • pyelonephritis
  • hyperbilirubinemia

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