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  • • Malaise, abdominal discomfort

    • Jaundice, anemia, splenomegaly

    • Increased osmotic fragility of red cells, negative Coombs test

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Epidemiology

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  • • The most common congenital hemolytic anemia, affecting 1:5000 persons

    • Transmitted as an autosomal dominant trait

    • Caused by deficiency of spectrin and ankyrin, erythrocyte membrane proteins, which maintain cellular osmotic stability and prevent splenic destruction

    • The normal shape of the erythrocyte is changed from a biconcave disk into a sphere, which causes a lack of deformability and delays passage through the channels of the splenic red pulp

    • Significant cell destruction occurs only in the presence of the spleen

    • Usually diagnosed in the first 3 decades; in occasional instances the diagnosis is not made until later in adult life

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Symptoms and Signs

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  • • Mild to moderate anemia

    • Jaundice

    • Easy fatigability

    • Discomfort in the left upper quadrant

    • Splenomegaly

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Laboratory Findings

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  • • Decreased hemoglobin

    • Negative Coombs test

    • Spherocytes on a Wright-stained smear

    • Increased reticulocyte count (5-20%)

    • Elevated indirect serum bilirubin and stool urobilinogen

    • Decreased or absent serum haptoglobin

    • Increased osmotic fragility, best demonstrated by the cryohemolysis test

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  • • Periodic exacerbations of hemolysis can occur

    • The rare hypoplastic crises, which often follow acute viral illnesses, may be associated with profound anemia, headache, nausea, abdominal pain, pancytopenia, and hypoactive marrow

    • Pigment gallstones occur in about 85% of adults with spherocytosis but are uncommon under age 10

    • -Gallstones in a child should suggest congenital spherocytosis

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Rule Out

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  • • Spherocytes in large numbers may occur in autoimmune hemolytic anemias, in which osmotic fragility and autohemolysis may be increased

    • Spherocytes also occur in hemoglobin C disease, in some alcoholics, and in some severe burns

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  • • CBC

    • Wright stain peripheral smear

    • Coombs test

    • Tests of osmotic fragility: Cryohemolysis test

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When to Admit

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  • • Hemolytic crisis

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When to Refer

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  • • Should be managed in conjunction with a hematologist

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Surgery

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  • • Splenectomy

    • When there is associated cholelithiasis, cholecystectomy should be performed along with the splenectomy

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Indications

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  • • All patients older than 6 years, even if asymptomatic

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Contraindications

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  • • Children younger than 6 years: High risk of infection; if high transfusion requirements, partial splenectomy

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Treatment Monitoring

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  • • CBC

    • Haptoglobin level

    • Serum bilirubin

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Complications

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  • • Pigment gallstones

    • Chronic leg ulcers

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Prognosis

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  • • Splenectomy cures anemia and jaundice; the membrane abnormality, and increased osmotic fragility persist, but RBC life span is almost normal

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References

Perrotta S: Hereditary spherocytosis. Lancet 2008;372:1411.  [PubMed: 18940465]

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