Hereditary Spherocytosis Treatment & Management

For practical purposes, the treatment of HS involves presplenectomy care, splenectomy, and postsplenectomy complications.^[5]

• Neonates with severe hyperbilirubinemia caused by HS are at risk for kernicterus, and these infants should be treated with phototherapy and/or exchange transfusion as clinically indicated.

  • Aplastic crises occasionally can cause the hemoglobin level to fall because of ongoing destruction of spherocytes that is not balanced by new RBC production. Red cell transfusions often are necessary.
  • Folic acid is required to sustain erythropoiesis. Patients with HS are instructed to take supplementary folic acid (1 mg/d) for life in order to prevent a megaloblastic crisis. During the first 6 years of life, if patients have compensated anemia, are growing well, and can keep up with their peers in most activities, limiting folic acid supplementation to 1 mg/d is prudent.
  • Subsequently, depending on the severity of the disease, splenectomy usually is curative, but not always. Some splenectomies fail because of accessory spleen, accidental autotransplantation of splenic tissue into the peritoneum during surgery, another hemolytic disorder, or splenosis. Failure to observe Howell-Jolly bodies may indicate the presence of functional splenic activity.
• Indications for splenectomy are not always clear.^[6]

  • Little doubt exists that patients with more severe anemia and symptoms and complications of HS should undergo splenectomy. Similarly, splenectomy can be deferred safely in patients with mild uncomplicated HS (hemoglobin level >11 g/dL).
  • No good studies have been performed that provide a basis for clinical judgments in patients with moderate asymptomatic HS (hemoglobin level 8-11 g/dL).
• Splenectomy usually is curative, except in the unusual autosomal recessive variant of HS.^[7]

  • Red cell survival is improved significantly but is not absolutely normal. The MCV usually falls, but the MCHC does not change significantly. Postsplenectomy blood changes include an increased hemoglobin level, decreased reticulocyte count, and the appearance of Howell-Jolly inclusion bodies and target cells. Leukocytosis and thrombocytosis are expected corollaries of splenectomy.
  • Fatal sepsis caused by capsulated organisms (eg, Streptococcus pneumoniae, Haemophilus influenzae) is a recognized complication in children who have had a splenectomy. The estimated rate of mortality from sepsis is approximately 200 times greater than that expected in the general population. Although most septic episodes have been observed in children whose spleens were removed in the first years of life, older children and adults also are susceptible.
  • A simultaneous cholecystectomy in patients with bilirubin stones may eliminate future complications and the need for a second operative procedure.
• Bilirubin gallstones are found in approximately 50% of patients with HS and frequently are present in patients with very mild disease. Therefore, periodic ultrasonic evaluation of the gallbladder should be performed. If surveillance ultrasound examination findings reveal gallstones, performing a prophylactic laparoscopic cholecystectomy seems reasonable. This procedure helps prevent significant biliary tract disease and, in some patients with mild HS, helps avoid the need for splenectomy.
• Children who are candidates for splenectomy include those with severe HS requiring red cell transfusions and those with moderate HS who manifest growth failure or other signs and symptoms of anemia. Splenectomy for children with HS should be performed when the child is older than 6 years.
• Another interesting approach has been the use of partial splenectomy to retain splenic immunologic function while at the same time reducing the rate of hemolysis.^{[8, 9]}

Generally, the treatment of HS involves presplenectomy care, splenectomy, and postsplenectomy complications. See Medical Care. A trend toward partial splenectomies exists in the pediatric population, which appears to control hemolysis and, at the same time, preserve splenic function.

Abdullah et al conducted a retrospective review of over 1650 children who underwent splenectomy for hereditary spherocytosis to determine the outcome and safety of these patients.^[7] The investigators found low morbidity and mortality with splenectomy, and safe performance of concurrent cholecystectomy and/or appendectomy. In addition, Abdullah et al found a minimal number of potentially avoidable complications as identified by the Agency for Healthcare Research and Quality (AHRQ) pediatric quality indicators (of 13 such indicators, none occurred in more than 1% of the splenectomized children).^[7]

• Surgeon

  • Those patients with recurring episodes of severe hemolysis should be evaluated by a surgeon for possible splenectomy because splenectomy provides the greatest chance for control and possible cure of their disease.
  • Another reason for consulting a surgeon is for the complications of gallstone formation and for the prevention of formation in those patients with continued hemolysis.
• Hematologist

  • If the diagnosis is unclear after routine testing or the patient has severe episodes of hemolysis, consultation with a hematologist is warranted because the patient may have a variant of HS or more than one hemolytic disease.
  • A hematologist also may provide treatment advice directed at iron over load issues for patients who have an extensive transfusion history or for those who have been receiving prolonged oral iron supplementation.