eMedicine Specialties > Pediatrics: General Medicine > Hematology

Hereditary Elliptocytosis and Related Disorders: Treatment & Medication

Author: Richard H Sills, MD, Professor of Pediatrics, Upstate Medical University
Coauthor(s): Mandy Meck, MD, Assistant Professor, Department of Pediatrics, University of Virginia School of Medicine; Consulting Staff, Department of Pediatrics, Division of Hematology/Oncology, Carilion Roanoke Community Hospital
Contributor Information and Disclosures

Updated: Sep 26, 2008

Treatment

Medical Care

Treatment is rarely indicated for patients with mild hereditary elliptocytosis (HE) or its variants. In severe cases, occasional erythrocyte transfusions may be required.

  • Daily folate is recommended for patients with significant hemolysis.
  • The detection of gallstones is important, and patients older than 6 years should undergo abdominal ultrasonography if they are symptomatic.
  • Observe patients with sporadic hemolysis for signs of decompensation during serious illnesses or conditions that exacerbate hemolysis.
  • Pay special attention to viral illnesses such as parvovirus, which can cause transient RBC aplasia and sudden precipitous decreases in hemoglobin levels.
  • Care for neonates as for any patient with hemolytic anemia.
  • Phototherapy and exchange transfusion are warranted in cases of severe anemia and hyperbilirubinemia.

Surgical Care

Splenectomy has been palliative in severe cases of hereditary elliptocytosis and hereditary pyropoikilocytosis (HPP), and indications are the same as those for hereditary spherocytosis. Consider splenectomy in patients who have moderate-to-severe anemia with significant symptoms (eg, growth failure, skeletal changes, leg ulcers) and in older patients with vascular compromise to vital organs.

Splenectomy is rarely necessary in the first 2 years of life; if possible, avoid it in patients younger than 5 years because of the risk of overwhelming bacterial septicemia. In most neonates with hereditary elliptocytosis and HPP, even those with severe hemolytic anemia in the perinatal period, the disease evolves to mild hereditary elliptocytosis. For this reason, and because of the substantial risk of overwhelming bacterial septicemia (especially in the first 5 years of life), postpone splenectomy until it is strictly indicated.

After splenectomy, most patients with hereditary elliptocytosis or HPP have increased hemoglobin levels, decreased reticulocyte counts, and improved symptoms.

Administer pneumococcal vaccines before the procedure; both conjugated and polysaccharide vaccines may be indicated depending on the patient's age. Ensure that the Haemophilus influenzae vaccine has also been administered. Conjugated meningococcal vaccine (MCV4) should also be given if the child is 2 years of age or older. Patients who undergo splenectomy should be placed on antibiotic prophylaxis to prevent postoperative infections caused by encapsulated bacteria. The duration of such therapy remains controversial but should last until at least age 5 years and should be no less than one year in duration. In children, the duration is typically considerably longer.

Consultations

Because these disorders are rare, consult a pediatric hematologist for the evaluation and management of hematologic manifestations.

Diet

No dietary restrictions are indicated.

Activity

No restrictions on activity are indicated, unless a substantial splenomegaly is present. A risk of splenic rupture is associated with contact sports.

Medication

The only medication routinely used in the treatment of hereditary elliptocytosis (HE) in patients with significant hemolysis is folic acid. Patients undergoing splenectomy require pneumococcal (nonconjugated vaccine, as well as conjugated vaccine, if not already given, and H influenzae vaccine, if not already given) before the procedure and lifelong prophylactic antibiotics. Details of presplenectomy and postsplenectomy care are beyond the scope of this article.

Vitamins

Vitamins are essential for normal DNA synthesis and are consumed during times of increased RBC turnover.


Folic acid (Folvite)

Important cofactor for enzymes used in production of RBCs.

Adult

1 mg PO qd

Pediatric

Administer as in adults

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

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Some products may contain benzyl alcohol as a preservative (associated with a fatal gasping syndrome in premature infants); resistance to treatment may occur in alcoholism and deficiencies of other vitamins

More on Hereditary Elliptocytosis and Related Disorders

Overview: Hereditary Elliptocytosis and Related Disorders
Differential Diagnoses & Workup: Hereditary Elliptocytosis and Related Disorders
Treatment & Medication: Hereditary Elliptocytosis and Related Disorders
Follow-up: Hereditary Elliptocytosis and Related Disorders
Multimedia: Hereditary Elliptocytosis and Related Disorders
References
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References

  1. Delaunay J. The molecular basis of hereditary red cell membrane disorders. Blood Rev. Jan 2007;21(1):1-20. [Medline].

  2. Gallagher PG. Hereditary elliptocytosis: spectrin and protein 4.1R. Semin Hematol. Apr 2004;41(2):142-64. [Medline].

  3. Floyd PB, Gallagher PG, Valentino LA, et al. Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide. Blood. Sep 1 1991;78(5):1364-72. [Medline]. [Full Text].

  4. Christensen RD. Hematologic Problems of the Neonate. 2000:231-233.

  5. Gallagher PG, Lux SE. Disorders of the erythrocyte membrane. In: Nathan and Oski's Hematology of Infancy and Childhood. 2003:617-32.

  6. Lanzkowsky P. Manual of Pediatric Hematology and Oncology. 2nd ed. 1995:108-9.

  7. Lilleyman JS, Hann IM, Blanchette VS. Pediatric Hematology. 2nd ed. 1999:266-71.

  8. Miraglia del Giudice E, Perrotta S, Sannino E, et al. Molecular heterogeneity of hereditary elliptocytosis in Italy. Haematologica. Sep-Oct 1994;79(5):400-5. [Medline].

  9. Quigley M, Linfesty RL, Bethel K, Sharpe R. Stubby elliptocytes are an invariable feature of leukoerythroblastosis. Blood. Mar 15 2007;109(6):2666. [Medline].

  10. Stamatoyannopoulos G, Majerus PW, Perlmutter RM. The Molecular Basis of Blood Diseases. 3rd ed. 2001:297-8.

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Further Reading

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Keywords

hereditary elliptocytosis, HE, hereditary pyropoikilocytosis, HPP, hemolytic anemia, Southeast Asian ovalocytosis, stomatocytic elliptocytosis, malaria, jaundice, splenomegaly, early gallbladder disease, neonatal hyperbilirubinemia, growth retardation, chronic anemia, frontal bossing, failure to thrive

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Contributor Information and Disclosures

Author

Richard H Sills, MD, Professor of Pediatrics, Upstate Medical University
Richard H Sills, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Society of Hematology, and American Society of Pediatric Hematology/Oncology
Disclosure: Nothing to disclose.

Coauthor(s)

Mandy Meck, MD, Assistant Professor, Department of Pediatrics, University of Virginia School of Medicine; Consulting Staff, Department of Pediatrics, Division of Hematology/Oncology, Carilion Roanoke Community Hospital
Mandy Meck, MD is a member of the following medical societies: American Academy of Pediatrics and American Society of Hematology
Disclosure: Nothing to disclose.

Medical Editor

Sharada A Sarnaik, MB, BS, Professor of Pediatrics, Wayne State University School of Medicine; Director, Sickle Cell Center, Attending Hematologist/Oncologist, Children's Hospital of Michigan
Sharada A Sarnaik, MB, BS is a member of the following medical societies: American Association of Blood Banks, American Association of University Professors, American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Gary D Crouch, MD, Program Director of Pediatric Hematology-Oncology Fellowship, Department of Pediatrics, Associate Professor, Uniformed Services University of the Health Sciences
Gary D Crouch, MD is a member of the following medical societies: American Academy of Pediatrics and American Society of Hematology
Disclosure: Nothing to disclose.

CME Editor

Helen SL Chan, MBBS, FRCP(C), FAAP, Senior Scientist, Research Institute; Professor, Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Canada
Helen SL Chan, MBBS, FRCP(C), FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA, Executive Director, Center for Cancer and Blood Disorders, Children's National Medical Center, Washington, DC; Professor of Medicine, Oncology, and Pediatrics, Georgetown University
Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American Association for Cancer Research, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

 
 
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