Skip to Main Content

+

  • • Structural or enzymatic defects in erythrocytes leading to hemolysis

    • Anemia, mild to severe

    • Splenomegaly

++

Epidemiology

++

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

++

Thalassemia

+

  • • 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

      -Infection

+

  • • 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

++

Surgery

++

Indications

+

  • • Elliptocytosis

    • Nonspherocytic hemolytic anemia

    • Thalassemia

++

Contraindications

+

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

++

Medications

+

  • • Iron chelation therapy for thalassemia

++

Treatment Monitoring

+

  • • CBC - monitor anemia

++

Complications

+

  • • Pigment gallstones

++

Prognosis

+

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

++

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]

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.