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      Drugs & Diseases > Hematology

      Hereditary Spherocytosis Clinical Presentation

      Updated: Mar 22, 2023
      • Author: Gus Gonzalez, MD; Chief Editor: Emmanuel C Besa, MD  more...
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      Presentation

      History

      As in other chronic hemolytic states, the signs and symptoms of hereditary spherocytosis (HS) include mild pallor, intermittent jaundice, and splenomegaly. However, signs and symptoms are highly variable. Anemia or hyperbilirubinemia may be of such magnitude as to require exchange transfusion in the neonatal period. The disorder also may escape clinical recognition altogether. Anemia usually is mild to moderate, but is sometimes very severe and sometimes not present.

      A classification based on severity of anemia and hemolysis has been developed, as follows [6] :

      • Hereditary spherocytosis trait - Normal hemoglbin and reticulocyte count
      • Mild HS - Hemoglobin 11 - 15 g/dL; reticulocyes 3-6 %; bilirubin 1-2 mg/dL (20-30% of cases)
      • Moderate HS - Hemoglobin 8-12 g/dL: reticulocytes > 6%; bilirubin > 2 mg/dL (60-75% of cases)
      • Severe HS - Hemoglobin 6-8 g/dL; reticulocytes >10%; bilirubin > 3 mg/dL (5% of cases)

      Newborns with HS may have a normal hemoglobin level at birth, followed by severe anemia that typically develops between 3 weeks of age and the first year of life. Children diagnosed early in life usually have a severe form of HS 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 HS had a history of jaundice during the first week of life. Recognition of HS as a potential cause of neonatal anemia and hyperbilirubinemia and prompt institution of treatment may reduce the risk of bilirubin-induced neurologic dysfunction in these patients. [16]

      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 HS 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 HS, cholelithiasis may be the first sign of an underlying red cell disorder.

      A family history of HS may be present, or the patient may report a history of a family member having had a splenectomy or cholecystectomy before the fourth decade of life. A history of family members with cholelithiasis in the second or third decade of life is also a clue to the possible presence of HS.

      Next:

      Physical Examination

      Splenomegaly is the rule in HS. Palpable spleens have been detected in more than 75% of affected subjects. The liver is normal in size and function.

      Other important clues are jaundice and upper right abdominal pain indicative of gallbladder disease. This is especially important if the patient has a family history of gallbladder disease. Any patient who presents with profound and sudden anemia and reticulocytopenia with the aforementioned physical findings also should have HS in the differential diagnosis.

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