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Pediatric Hereditary Elliptocytosis and Related Disorders Differential Diagnoses

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

Diagnostic Considerations

Elliptocytes may be observed in the blood smear in a wide variety of disorders; it is particularly common in iron-deficiency anemia. However, the percentage of elliptocytes in these conditions is usually low compared with that in hereditary elliptocytosis and its variants.

Pseudoelliptocytosis can occur as an artifact of blood film preparation. Pseudoelliptocytes are seen primarily at the tapered edge of a blood smear. They are not uniformly distributed.

Patients with hereditary elliptocytosis have also been found to have concurrent second hemolytic conditions such as glucose-6-phosphatase deficiency. This results in an additive effect on clinical severity.[10]

Differential Diagnoses

 
 
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
  1. Grace RF, Lux SE. Disorders of the Red Cell Membrane. Orkin SH, ed. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Philadelphia, Pa: Saunders Elsevier; 2009. Chapter 15.

  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].

  7. Brugnara C, Platt OS. The Neonatal Erythrocyte and Its Disorders. Orkin SH, ed. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Philadelphia, Pa: Saunders Elsevier; 2009.

  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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