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  • • Structural or enzymatic defects in erythrocytes leading to hemolysis

    • Anemia, mild to severe

    • Splenomegaly


Hereditary Elliptocytosis

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

Hereditary Nonspherocytic Hemolytic Anemia

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

Thalassemia Major and Minor

  • • 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

Symptoms and Signs

  • • Abdominal pain

    • Jaundice

    • Splenomegaly

Laboratory Findings

  • • Anemia

    • Increased serum bilirubin

    • Decreased haptoglobin

    • Increased reticulocyte count

Hereditary Elliptocytosis

  • • Elliptical red blood cells on peripheral smear


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

    • Persistence of fetal hemoglobin (Hb F)

  • • 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

Rule Out

  • • Other causes of hemolytic anemia

    • -Autoimmune hemolytic anemias

      -Thrombotic thrombocytopenic purpura,

      -Disseminated intravascular coagulation


  • • CBC

    • Peripheral smear

    • Serum bilirubin

    • Serum haptoglobin

When to Admit

  • • Severe anemia

When to Refer

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

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

    • If gallstones are present, patient should undergo concurrent cholecystectomy



  • • Elliptocytosis

    • Nonspherocytic hemolytic anemia

    • Thalassemia


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


  • • Iron chelation therapy for thalassemia

Treatment Monitoring

  • • CBC - monitor anemia


  • • Pigment gallstones


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


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] ...

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