eMedicine Specialties > Pediatrics: General Medicine > Hematology

Hereditary Elliptocytosis and Related Disorders: Follow-up

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

Follow-up

Further Inpatient Care

  • Inpatient care is rarely required.

Further Outpatient Care

  • The frequency of outpatient visits depends on the clinical picture and the severity of hemolytic disease. In general, annual examinations with an evaluation of CBC count and reticulocyte count suffice. See patients on an as-needed basis to evaluate for signs of increased hemolysis such as pallor or jaundice.

Inpatient & Outpatient Medications

  • Patients who have significant hemolytic anemia should take 1 mg of folic acid daily to replenish their stores and to support RBC production.

Deterrence/Prevention

  • Offer genetic counseling to all patients with hereditary elliptocytosis (HE) or its variants.

Complications

  • Hemolytic anemia is the primary complication of hereditary elliptocytosis and hereditary pyropoikilocytosis (HPP). The severity widely varies, but some patients require erythrocyte transfusions.
  • Transient pure RBC aplasia has been reported in patients with sporadic hemolysis. The causes seem to be identical to those of other hemolytic diseases; parvovirus is the most common cause.
  • Patients requiring blood transfusions are at risk for transfusion reactions and the transmission of viral or other infections.
  • Patients who have significant hemolytic disease are also at risk for gallstones secondary to chronic hyperbilirubinemia. If symptomatic, patients older than 6 years should undergo ultrasonographic evaluations to assess the gallbladder.
  • Splenic rupture is a potential but rare event, if substantial splenomegaly is present.

Prognosis

  • The prognosis for patients with hereditary elliptocytosis and related disorders is good; patients should have a normal life expectancy.

Patient Education

  • Educate patients and their parents about the genetic factors of the disease.
  • Educate patients and their parents about the signs and symptoms of hemolysis and anemia and about when they should call their physician. Education should include training about how to recognize signs of splenic sequestration and how to palpate the size of the spleen.
  • Educate patients requiring splenectomy about the risks of infection and about the indications for prophylactic antibiotic therapy and vaccinations. Patients should know when to seek medical attention for fever if they have significant hemolysis or have undergone splenectomy.
  • Patients should know the signs and symptoms associated with gallstones, and they should understand that they are at increased risk if significant hemolysis is present.
  • Patients with hereditary elliptocytosis should be counseled that their offspring could have severe hemolytic anemia in the newborn period that requires exchange transfusion of RBCs.
  • If splenomegaly is substantial, patients should be counseled concerning the risk of abdominal trauma and potential splenic rupture or subcapsular hematoma.

Miscellaneous

Medicolegal Pitfalls

  • Failure to educate patients and their families about the infectious complications of splenectomy
  • Failure to provide genetic counseling
  • Failure to warn patients about the risk of splenic rupture in association with splenomegaly
 


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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