eMedicine Specialties > Hematology > Red Blood Cells and Disorders

Spherocytosis, Hereditary: Treatment & Medication

Author: Gus Gonzalez, MD, Medical Oncologist, The Center for Cancer and Blood Disorders
Coauthor(s): E Randy Eichner, MD, Professor, Department of Internal Medicine, University of Oklahoma Health Sciences Center
Contributor Information and Disclosures

Updated: Aug 27, 2009

Treatment

Medical Care

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

  • 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.
    • 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.4
    • 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.5,6

Surgical Care

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.4 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).4

Consultations

  • 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.

Medication

The goals of pharmacotherapy are to reduce morbidity and prevent complications.

Vitamins

These agents are essential for normal DNA synthesis.


Folic acid (Folvite)

Important water-soluble cofactor for enzymes used in production of RBCs.

Adult

Disease seen only in children

Pediatric

1 mg PO/IM/SC qd

Increase in seizure frequency and subtherapeutic levels of phenytoin reported when used concurrently

Pregnancy

C - Safety for use during pregnancy has not been established.

Precautions

Some products may contain benzyl alcohol (a preservative), which is associated with a fatal gasping syndrome in premature infants; resistance to treatment may occur in patients with alcoholism and deficiencies of other vitamins; during first 6 y of life, if patient has compensated anemia, is growing well, and can keep up with peers in most activities, limiting folic acid to 1 mg/d is prudent

More on Spherocytosis, Hereditary

Overview: Spherocytosis, Hereditary
Differential Diagnoses & Workup: Spherocytosis, Hereditary
Treatment & Medication: Spherocytosis, Hereditary
Follow-up: Spherocytosis, Hereditary
References
Further Reading
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References

  1. Perrotta S, Della Ragione F, Rossi F, et al. {beta}-spectrinBari: a truncated {beta}-chain responsible for dominant hereditary spherocytosis. Haematologica. Jul 16 2009;epub ahead of print. [Medline]. [Full Text].

  2. Maciag M, Plochocka D, Adamowicz-Salach A, Burzynska B. Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. Br J Haematol. Aug 2009;146(3):326-32. [Medline].

  3. Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. Oct 18 2008;372(9647):1411-26. [Medline].

  4. Abdullah F, Zhang Y, Camp M, Rossberg MI, Bathurst MA, Colombani PM, et al. Splenectomy in hereditary spherocytosis: Review of 1,657 patients and application of the pediatric quality indicators. Pediatr Blood Cancer. Jul 2009;52(7):834-7. [Medline].

  5. Morinis J, Dutta S, Blanchette V, Butchart S, Langer JC. Laparoscopic partial vs total splenectomy in children with hereditary spherocytosis. J Pediatr Surg. Sep 2008;43(9):1649-52. [Medline].

  6. Grace RF, Mednick RE, Neufeld EJ. Compliance with immunizations in splenectomized individuals with hereditary spherocytosis. Pediatr Blood Cancer. Jul 2009;52(7):865-7. [Medline].

  7. Agre P, Asimos A, Casella JF, McMillan C. Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis. N Engl J Med. Dec 18 1986;315(25):1579-83. [Medline].

  8. Costa FF, Agre P, Watkins PC, et al. Linkage of dominant hereditary spherocytosis to the gene for the erythrocyte membrane-skeleton protein ankyrin. N Engl J Med. Oct 11 1990;323(15):1046-50. [Medline].

  9. Gallagher PG. Hematologically important mutations: ankyrin variants in hereditary spherocytosis. Blood Cells Mol Dis. Nov-Dec 2005;35(3):345-7.

  10. Glader BE, Naumovski L. Hereditary red blood cell disorders. In: Emery AE, Rimoin, DL, eds. Principles and Practice of Medical Genetics. New York, NY:. Churchill Livingstone;1996.

  11. Hassoun H, Palek J. Hereditary spherocytosis: a review of the clinical and molecular aspects of the disease. Blood Rev. Sep 1996;10(3):129-47. [Medline].

  12. Hassoun H, Vassiliadis JN, Murray J, et al. Hereditary spherocytosis with spectrin deficiency due to an unstable truncated beta spectrin. Blood. Mar 15 1996;87(6):2538-45. [Medline].

  13. Korones D, Pearson HA. Normal erythrocyte osmotic fragility in hereditary spherocytosis. J Pediatr. Feb 1989;114(2):264-6. [Medline].

  14. Lee RD, Glader JN, Lukens JN. In: Lee GR, Foerster J, Lukens J, Paraskevas F, Greer JP, Rodgers GM, eds. Wintrobe's Clinical Hematology. 10th ed. Baltimore, Md: Lippincott Williams & Wilkins; 1999:. 1132-42.

  15. Nakashima K, Beutler E. Erythrocyte cellular and membrane deformability in hereditary spherocytosis. Blood. Mar 1979;53(3):481-5. [Medline].

  16. Peters LL, Lux SE. Ankyrins: structure and function in normal cells and hereditary spherocytes. Semin Hematol. Apr 1993;30(2):85-118. [Medline].

  17. Rice HE, Oldham KT, Hillery CA, et al. Clinical and hematologic benefits of partial splenectomy for congenital hemolytic anemias in children. Ann Surg. Feb 2003;237(2):281-8.

  18. Sackey K. Hemolytic anemia: Part 1. Pediatr Rev. May 1999;20(5):152-8; quiz 159. [Medline].

  19. Sackey K. Hemolytic anemia: Part 2. Pediatr Rev. Jun 1999;20(6):204-8. [Medline].

  20. Savvides P, Shalev O, John KM, Lux SE. Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis. Blood. Nov 15 1993;82(10):2953-60. [Medline].

  21. Stoehr GA, Stauffer UG, Eber SW. Near-total splenectomy: a new technique for the management of hereditary spherocytosis. Ann Surg. Jan 2005;241(1):40-7.

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Further Reading

Related eMedicine Topics

Clinical Trials

National Guideline Clearinghouse

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Keywords

hereditary spherocytosis, HS, congenital spherocytosis, familial hemolytic disorder, hemolytic anemia, anemia, blood disorder, hereditary hemolytic anemia, aplastic crisis, megaloblastic crisis, hemolytic crisis, cholecystitis, cholelithiasis, neonatal hemolysis, splenomegaly

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Contributor Information and Disclosures

Author

Gus Gonzalez, MD, Medical Oncologist, The Center for Cancer and Blood Disorders
Gus Gonzalez, MD is a member of the following medical societies: American College of Physicians-American Society of Internal Medicine
Disclosure: Nothing to disclose.

Coauthor(s)

E Randy Eichner, MD, Professor, Department of Internal Medicine, University of Oklahoma Health Sciences Center
E Randy Eichner, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Sports Medicine, American Medical Society for Sports Medicine, and American Society of Hematology
Disclosure: Nothing to disclose.

Medical Editor

Paul Schick, MD, Emeritus Professor, Department of Internal Medicine, Thomas Jefferson University Medical College; Research Professor, Department of Internal Medicine, Drexel University College of Medicine; Adjunct Professor of Medicine, Lankenau Hospital, Wynnewood, PA
Paul Schick, MD is a member of the following medical societies: American College of Physicians, American Heart Association, American Society of Hematology, International Society on Thrombosis and Haemostasis, and New York Academy of Sciences
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Ronald A Sacher, MB, BCh, MD, FRCPC, Professor, Internal Medicine and Pathology, Director, Hoxworth Blood Center, University of Cincinnati Academic Health Center
Ronald A Sacher, MB, BCh, MD, FRCPC is a member of the following medical societies: American Society of Hematology
Disclosure: Glaxo Smith Kline Honoraria Speaking and teaching; Talecris Honoraria Board membership

CME Editor

Rajalaxmi McKenna, MD, FACP, Consulting Staff, Department of Medicine, Southwest Medical Consultants, SC, Good Samaritan Hospital, Advocate Health Systems
Rajalaxmi McKenna, MD, FACP is a member of the following medical societies: American Society of Clinical Oncology, American Society of Hematology, and International Society on Thrombosis and Haemostasis
Disclosure: Nothing to disclose.

Chief Editor

Emmanuel C Besa, MD, Professor, Department of Medicine, Division of Hematologic Malignancies, Kimmel Cancer Center, Thomas Jefferson University
Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, and New York Academy of Sciences
Disclosure: Nothing to disclose.

 
 
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