eMedicine Specialties > Pediatrics: General Medicine > Hematology

Hereditary Elliptocytosis and Related Disorders: Differential Diagnoses & Workup

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

Differential Diagnoses

Anemia, Acute
Myelofibrosis
Anemia, Chronic
Myelophthisic Anemia
Anemia, Megaloblastic
Iron Deficiency Anemia
Myelodysplasia

Other Problems to Be Considered

Elliptocytosis can be seen in a wide variety of disorders as noted above. However, the number of elliptocytes seen is usually considerably less than that seen in hereditary elliptocytosis (HE).

Pseudoelliptocytosis can be an artifact of blood film preparation. Pseudoelliptocytes would be seen primarily at the tapered edge of a smear instead of uniformly distributed. A wet preparation can be used to discern the true elliptical shape of hereditary elliptocytosis versus the discoid shape of a normal erythrocyte.

Workup

Laboratory Studies

  • Peripheral blood smear
    • The hallmark of hereditary elliptocytosis (HE) is the presence of cigar-shaped elliptocytes on the peripheral blood smear. Elliptocytes are normochromic and normocytic and range from few to 100% of erythrocytes. Spherocytes, ovalocytes, stomatocytes, and fragmented cells may also be observed.
    • Poikilocytosis (variation in cell shape) and erythrocyte fragmentation in addition to elliptocytosis are a feature of patients with severe anemia.
    • Hereditary pyropoikilocytosis (HPP) erythrocytes are bizarrely shaped with fragmentation or budding. Morphology is similar to that seen in patients who have sustained severe thermal burns. Microspherocytosis is commonly found. Pyknocytes are prominent in blood smears of neonates with HPP.
  • Controlled thermal stress test
    • Thermal instability of erythrocytes occurs in the severe variants of hereditary elliptocytosis, including HPP.
    • These tests are not generally required to establish the diagnosis.
  • CBC count with reticulocyte count
    • A CBC count reveals the degree of anemia if present. Only 10% of patients are anemic. A CBC count is determined to evaluate the other cell lines. Their numbers are generally within the reference ranges but can be elevated if acute hemolysis is present.
    • The reticulocyte count in mild hereditary elliptocytosis is typically less than 5%. In the severe forms of hereditary elliptocytosis and in HPP, reticulocyte counts as high as 30% have been reported.
  • Osmotic fragility tests: Osmotic fragility testing is not typically required, although results are within reference ranges in common hereditary elliptocytosis and are increased in severe hereditary elliptocytosis and HPP.
  • DNA testing: Although a review of family history and the RBC morphology can usually confirm the diagnosis of hereditary elliptocytosis or HPP, specialized testing is available. Testing includes complementary DNA and genomic DNA analyses and analysis of membrane proteins by using gel electrophoresis and spectrin-dimer self-association assays.
  • Other laboratory tests: Measures of increased erythrocyte production and destruction could be evaluated, as in any hemolytic process. These include serum bilirubin and urinary urobilinogen levels, which are increased during hemolysis, and the serum haptoglobin level, which is decreased.

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
[ CLOSE WINDOW ]

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.

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

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

[ CLOSE WINDOW ]

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.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.