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  • • Structural or enzymatic defects in erythrocytes leading to hemolysis

    • Anemia, mild to severe

    • Splenomegaly

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Epidemiology

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Hereditary Elliptocytosis

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  • • Elliptical erythrocytes due to defects in cytoskeletal proteins, leading to change in shape, decreased plasticity, and shortened lifespan

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Hereditary Nonspherocytic Hemolytic Anemia

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  • • Due to inherited red cell defects that lead to oxidative hemolysis (pyruvate kinase deficiency and glucose 6-phosphate dehydrogenase [G6PD] deficiency)

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Thalassemia Major and Minor

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  • • Structural defect in the β-globin chain causes excess α chains to precipitate and cells to pass poorly through the spleen leading to increased splenic destruction and target cells

    • Heterozygotes usually have mild anemia (thalassemia minor); however, starting early in infancy, homozygotes have severe chronic anemia

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Symptoms and Signs

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  • • Abdominal pain

    • Jaundice

    • Splenomegaly

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Laboratory Findings

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  • • Anemia

    • Increased serum bilirubin

    • Decreased haptoglobin

    • Increased reticulocyte count

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Hereditary Elliptocytosis

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  • • Elliptical red blood cells on peripheral smear

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Thalassemia

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  • • Target cells, nucleated red cells, and a hypochromic microcytic anemia on peripheral smear

    • Persistence of fetal hemoglobin (Hb F)

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  • • Laboratory investigation indicated in cases of hemolytic anemia in order to determine whether caused by underlying structural or enzymatic defects

    • High incidence pigmented gallstones found in patients with hereditary hemolytic anemia

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Rule Out

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  • • Other causes of hemolytic anemia

    • -Autoimmune hemolytic anemias

      -Thrombotic thrombocytopenic purpura,

      -Disseminated intravascular coagulation

      -Infection

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  • • CBC

    • Peripheral smear

    • Serum bilirubin

    • Serum haptoglobin

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When to Admit

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  • • Severe anemia

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When to Refer

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  • • These disorders should be managed in conjunction with a hematologist

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  • • Splenectomy may reduce transfusion requirements and lessen abdominal pain associated with splenomegaly

    • If gallstones are present, patient should undergo concurrent cholecystectomy

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Surgery

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Indications

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  • • Elliptocytosis

    • Nonspherocytic hemolytic anemia

    • Thalassemia

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Contraindications

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  • G6PD deficiency: Splenectomy is not beneficial, and treatment consists of avoidance of dietary oxidants

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Medications

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  • • Iron chelation therapy for thalassemia

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Treatment Monitoring

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  • • CBC - monitor anemia

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Complications

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  • • Pigment gallstones

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Prognosis

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  • • Transfusion requirements may be decreased and abdominal pain improved after splenectomy

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References

Silveira P et al. Red blood cell abnormalities in hereditary elliptocytosis and their relevance to variable clinical expression. Am J Clin Pathol. 1997;108:391.  [PubMed: 9322591]
Weatherall DJ. The thalassemias. BMJ. 1997;314:1675.  [PubMed: 9193293]

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