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Key Features

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Essentials of Diagnosis
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  • Anemia and jaundice

  • Splenomegaly

  • Positive family history of anemia, jaundice, or gallstones

  • Spherocytosis with increased reticulocytes

  • Increased osmotic fragility

  • Negative direct antiglobulin test (DAT)

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General Considerations
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  • Relatively common inherited hemolytic anemia

  • Occurs in all ethnic groups, but is most common in persons of northern European ancestry, in whom the incidence is about 1:5000

  • Disease is inherited in an autosomal dominant fashion in about 75% of cases; the remaining cases are thought to be autosomal recessive or due to de novo mutations

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Clinical Findings

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Symptoms and Signs
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  • Hemolysis causes significant neonatal hyperbilirubinemia in 50% of affected children

  • Splenomegaly subsequently develops in the majority and is often present by age 5 years

  • Jaundice is variably present and in many patients may be noted only during infection

  • Patients with significant chronic anemia may complain of pallor, fatigue, or malaise

  • Intermittent exacerbations of the anemia

    • Caused by increased hemolysis, splenic sequestration or by aplastic crises

    • May be associated with severe weakness, fatigue, fever, abdominal pain, or even heart failure

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Diagnosis

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  • Most patients have mild chronic hemolysis with hemoglobin levels of 9–12 g/dL

  • In some cases, hemolysis is fully compensated and the hemoglobin level is in the normal range

  • Anemia is usually normocytic and hyperchromic, and many patients have an elevated mean corpuscular hemoglobin concentration

  • Peripheral blood smear shows numerous microspherocytes and polychromasia

  • WBC and platelet counts are usually normal

  • Serum bilirubin usually shows an elevation in the unconjugated fraction

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Treatment

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  • Supportive measures include the administration of folic acid to prevent the development of red cell hypoplasia due to folate deficiency

  • Acute exacerbations of anemia, due to increased rates of hemolysis or to aplastic crises caused by infection with human parvovirus, may be severe enough to require red cell transfusions

  • Splenectomy

    • May be indicated depending on clinical severity and always results in significant improvement

    • Should be postponed until the child is at least age 5 years because of the greater risk of postsplenectomy sepsis prior to this age, except in unusually severe cases

    • All patients scheduled for splenectomy should be immunized with pneumococcal, Haemophilus influenzae type b (Hib), and meningococcal vaccines prior to the procedure, and some clinicians recommend penicillin prophylaxis afterward

    • Asplenic patients with fever should be promptly evaluated for severe infection

    • Splenectomy prevents the subsequent development of cholelithiasis and eliminates the need for the activity restrictions

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Outcome

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Complications
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  • Severe jaundice may occur in the neonatal period and, if not controlled by phototherapy, may occasionally require exchange transfusion

  • Intermittent or persistent splenomegaly occurs in 10–25% of patients and may require removal

  • Splenectomy is associated with an increased risk of overwhelming bacterial infections, particularly with pneumococci

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Prognosis
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  • Splenectomy eliminates ...

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