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Pediatric Hereditary Elliptocytosis and Related Disorders Follow-up

  • Author: Trisha Simone Tavares, MD, FAAP; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
 
Updated: Oct 16, 2013
 

Further Outpatient Care

The frequency of outpatient visits depends on the clinical picture and the severity of hemolytic disease. In general, annual physical examinations to assess growth and spleen size are appropriate. At each visit, a CBC count and reticulocyte count should be obtained. Patients should be seen as needed to evaluate for signs of increased hemolysis such as pallor or jaundice. Severely symptomatic children should be monitored for failure to thrive. Patients who have undergone splenectomy should be evaluated when febrile.

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Further Inpatient Care

Inpatient care is rarely required but is indicated for severe complications.

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Inpatient & Outpatient Medications

Patients who have hemolytic anemia should take folic acid daily to replenish their folate stores and to support RBC production.

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Deterrence/Prevention

Offer genetic counseling to all patients with hereditary elliptocytosis or its variants. Inform patients that asymptomatic relatives including parents and siblings may be affected.

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Complications

Hemolytic anemia is the primary complication of hereditary elliptocytosis and hereditary pyropoikilocytosis. The severity widely varies, but some patients require RBC transfusions.

Transient pure RBC aplasia with acute anemia has been reported in patients with sporadic hemolysis. As in 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 cholelithiasis secondary to chronic hemolysis. If symptomatic, patients should undergo ultrasonographic evaluations to assess the gallbladder.

Albeit rare, splenic rupture is possible if substantial splenomegaly is present.

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Prognosis

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

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Patient Education

Educate patients and their parents about the inheritance pattern of the disease. They should understand that asymptomatic family members may have affected offspring.

Patients with hereditary elliptocytosis should be counseled that their offspring could have severe hemolytic anemia in the newborn period.

Educate patients and their parents about the signs and symptoms of hemolysis and anemia with instructions on when to access medical care. Patients and/or parents should become skilled in palpation of the size of the spleen.

Educate patients requiring splenectomy about the risks of infection. Educate patients about the need for preoperative vaccinations. Educate patients about the appropriate timing of immunization in relation to splenectomy.

Educate patients about when to seek medical attention for fever if they have undergone splenectomy.

Patients should know the signs and symptoms that indicate the presence of gallstones, and they should understand that they are at increased risk if significant hemolysis is present.

If splenomegaly is substantial, patients should be counseled concerning the risk of abdominal trauma and potential splenic rupture or subcapsular hematoma.

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Contributor Information and Disclosures
Author

Trisha Simone Tavares, MD, FAAP Attending Physician, Department of Pediatrics, Section of Hematology/Oncology, Cardon Children's Medical Center

Trisha Simone Tavares, MD, FAAP is a member of the following medical societies: Children's Oncology Group

Disclosure: Nothing to disclose.

Coauthor(s)

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, American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Gary D Crouch, MD Associate Professor, Program Director of Pediatric Hematology-Oncology Fellowship, Department of Pediatrics, Uniformed Services University of the Health Sciences

Gary D Crouch, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Hematology

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA Executive Vice President, Chief Medical and Academic Officer, Renown Heath

Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American College of Healthcare Executives, American Society of Pediatric Hematology/Oncology, Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Sharada A Sarnaik, MBBS Professor of Pediatrics, Wayne State University School of Medicine; Director, Sickle Cell Center, Associate Hematologist/Oncologist, Children's Hospital of Michigan

Sharada A Sarnaik, MBBS is a member of the following medical societies: American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, Society for Pediatric Research, Children's Oncology Group, American Academy of Pediatrics, Midwest Society for Pediatric Research

Disclosure: Nothing to disclose.

References
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  2. Knight J, Czuchlewski DR. Acquired elliptocytosis of myelodysplastic syndrome. Blood. 2013 Jan 24. 121(4):572. [Medline].

  3. Barcellini W, Bianchi P, Fermo E, et al. Hereditary red cell membrane defects: diagnostic and clinical aspects. Blood Transfus. 2011 Jul. 9(3):274-7. [Medline]. [Full Text].

  4. Garnett C, Bain BJ. South-East Asian ovalocytosis. Am J Hematol. 2013 Apr. 88(4):328. [Medline].

  5. Soderquist C, Bagg A. Hereditary elliptocytosis. Blood. 2013 Apr 18. 121(16):3066. [Medline].

  6. Da Costa L, Galimand J, Fenneteau O, Mohandas N. Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. Blood Rev. 2013 May 9. [Medline].

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  8. Rosanas-Urgell A, Lin E, Manning L, Rarau P, Laman M, Senn N. Reduced risk of Plasmodium vivax malaria in Papua New Guinean children with Southeast Asian ovalocytosis in two cohorts and a case-control study. PLoS Med. 2012. 9(9):e1001305. [Medline].

  9. Heeney M, Dover GJ. Orkin SH, ed. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Philadelphia, Pa: Saunders Elsevier; 2009. Chapter 19.

  10. Luzzatoo L, Poggi V. Glucose-6-Phosphate Dehydrogenase Deficiency. Orkin SH, ed. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Philadelphia, Pa: Saunders Elsevier; 2009. Chapter 17.

  11. Ipsaro JJ, Harper SL, Messick TE, Marmorstein R, Mondragon A, Speicher DW. Crystal structure and functional interpretation of the erythrocyte spectrin tetramerization domain complex. Blood. 2010 Jun 10. 115(23):4843-52. [Medline]. [Full Text].

  12. Wilder JA, Stone JA, Preston EG, Finn LE, Ratcliffe HL, Sudoyo H. Molecular population genetics of SLC4A1 and Southeast Asian ovalocytosis. J Hum Genet. 2009 Mar. 54(3):182-7. [Medline].

  13. King MJ, Bruce LJ, Dhermy D. Hemolytic Anemias Associated with Disorders of Erythrocyte Membrane and Cytoskeleton Proteins. Kottke-Marchant K, Davis BH, eds. Laboratory Hematology Practice. Oxford, UK: Wiley-Blackwell; 2012.

  14. Caprari P, Tarzia A, Mojoli G, Cianciulli P, Mannella E, Martorana MC. Hereditary spherocytosis and elliptocytosis associated with prosthetic heart valve replacement: rheological study of erythrocyte modifications. Int J Hematol. 2009 Apr. 89(3):285-93. [Medline].

 
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Cigar-shaped erythrocytes seen in hereditary elliptocytosis. Courtesy of Jean A. Shafer, BS, MA, Assistant Professor of Hematology and Pathology at the University of Rochester School of Medicine and Dentistry.
Schematic diagram of the components of the RBC membrane. Hereditary elliptocytosis can result from defects of alpha or beta spectrin or from a defective spectrin-actin-protein 4.1R junctional complex.
Bizarre RBC morphology seen in hereditary pyropoikilocytosis. Courtesy of Jean A. Shafer, BS, MA, Assistant Professor of Hematology and Pathology at the University of Rochester School of Medicine and Dentistry.
 
 
 
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