Hereditary spherocytosis medical therapy

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

There is no specific medical therapy for the hereditary spherocytosis, as the diagnosis is made, surveillance is needed to help detect and manage any complications. A routine annual review is usually sufficient to detect any complications. Folic acid supplementation is not always required, but is used as a routine for children with severe hemolysis and in pregnancy regardless of severity of disease. Blood transfusion may also be required in severely affected infants and may be needed during aplastic crisis or pregnancy. However, erythropoietin (EPO) may be helpful in reducing the need for transfusion in some infants.

• There is no specific medical therapy for hereditary spherocytosis. As the diagnosis of hereditary spherocytosis is made, surveillance is needed to help detect and manage any complications.^[1]
• A routine annual review is usually sufficient to detect any complications such as parvovirus infection or abdominal pain which may necessitate the investigation for gallstones.
• Folic acid
  • Folate supplementation is not always required, but is used as a routine for children with severe hemolysis and in pregnancy, regardless of severity of hereditary spherocytosis.^[2]
  • Folic acid supplementation is appropriate for those with moderate to severe hemolysis and/or during pregnancy.
  • This is based on an increased requirement for folate in RBC production; there are no clinical trials investigating the role of folic acid treatment, and observational studies that documented megaloblastic anemia in a small number of patients with hereditary spherocytosis were performed before the institution of routine folic acid supplementation of grains and cereals.^[3]
  • The typical dose for those with moderate to severe hemolysis is 1 to 2 mg/day, while those who have hereditary spherocytosis of any severity and are pregnant should receive doses as high as 4 to 5 mg/day, as discussed separately.
  • For individuals with mild hemolysis who have normal intake of fresh fruits and vegetables (or folic-acid-supplemented grains), daily folic acid is not required, but for those who place a high value on avoiding folate deficiency, which could cause worsening anemia, taking daily folic acid (typical dose, 1 to 2 mg daily) is safe and inexpensive, and there are essentially no side effects or contraindications.

• Transfusions
  • Blood transfusion is often required in severely affected infants and may be needed during certain times in other settings (eg, aplastic crisis, pregnancy).However, transfusions usually are not required on a chronic basis or for a long enough time to cause iron overload.
  • Typical hemoglobin thresholds for transfusion depend on the age of the patient, symptoms, and comorbidities.
  • Some infants may require transfusions for anemia and/or hyperbilirubinemia. Older children may be able to tolerate a hemoglobin level of 5 to 6 g/dL without transfusions.
  • Adults may require transfusions for anemia, with thresholds determined by their clinical status,
  • Individuals with an aplastic crisis due to parvovirus infection or other bone marrow insult may require transfusions if they have a decreasing hemoglobin level without a robust reticulocytosis.
  • The usual course of parvovirus associated anemia is spontaneous resolution within a few days or weeks. Infected individuals are monitored with twice-weekly complete blood counts (CBCs) and reticulocyte counts to determine the expected hemoglobin nadir and the need for transfusion.
  • Consideration of transfusional iron overload typically occurs after transfusion of more than 15 to 20 units of RBCs (more than 10 units in smaller children).
  • Adults with mild hemolysis may have a slight increase in iron absorption, and if this occurs in the setting of hereditary hemochromatosis, which is common, iron overload may occur.

• Erythropoietin
  • Erythropoietin (EPO) may be helpful in reducing the need for transfusion in some infants.^[4]
  • Typically, this can be discontinued around the age of nine months. In one study, the use of recombinant human erythropoietin (1000 international units/kg per week) with iron supplementation obviated the need for transfusion in 13 of 16 infants with severe hereditary spherocytosis.^[5]
  • As the infants grew and began to mount an adequate erythropoietic response, the erythropoietin dose could be tapered and discontinued before the age of nine months.

• Other therapies
  • Allogeneic hematopoietic cell transplantation (HCT) is not used in hereditary spherocytosis due to an unfavorable risk-benefit ratio, but a case was reported in which an individual with both hereditary spherocytosis and chronic myelogenous leukemia (CML) underwent allogeneic hematopoietic stem cell transplantation, which cured both disorders.^[6]

• There are no special restrictions (eg, no activity limitations) on children with splenomegaly due to hereditary spherocytosis.^[7]

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