Hemolytic Anemias, Miscellaneous Hereditary

• • 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