eMedicine Specialties > Hematology > Uncommon RBC Membrane Disorders

Elliptocytosis, Hereditary: Differential Diagnoses & Workup

Author: Daniel J Kim, MD, Staff Physician, Department of Medicine, Olive View - UCLA Medical Center
Coauthor(s): Leland D Powell, MD, PhD, Associate Clinical Professor of Medicine, David Geffen School of Medicine at UCLA; Consulting Staff, Department of Medicine, Olive View-UCLA Medical Center
Contributor Information and Disclosures

Updated: May 24, 2006

Differential Diagnoses

Glucose-6-Phosphate Dehydrogenase Deficiency
Myeloproliferative Disease
Iron Deficiency Anemia
Pyruvate Kinase Deficiency
Megaloblastic Anemia
Sickle Cell Anemia
Myelodysplastic Syndrome
Spherocytosis, Hereditary

Workup

Laboratory Studies

  • Microscopic examination of peripheral smears reveals that about 25% (sometimes nearly 100%) of cells are characteristically elliptical and often described as cigar-shaped. Some cases have fewer than 25% elliptocytes. Fragmented cells may also be seen.
    • Elliptocytes can occur in many other conditions (eg, iron deficiency, leukemias, megaloblastic anemias, myeloproliferative diseases, myelodysplastic syndromes) but usually do not reach the proportions observed in patients with hereditary elliptocytosis (HE). Elliptocytes in patients with severe iron deficient anemia are markedly hypochromic, a finding not associated with any of the HE disorders. Of most importance, patients with HE have a positive family history, whereas patients with other diseases associated with elliptocytes have underlying manifestations of their particular diseases.
    • Patients with HPP have an increased number of microspherocytes, whereas patients with stomatocytic elliptocytosis have distinctive, rounded elliptocytes bisected by a bar of hemoglobin, as described previously.
    • Pseudoelliptocytosis is a common artifact of peripheral smear preparation, in which the blood cells appear stretched and lined up in parallel; this finding is in contrast to true elliptocytosis in which the cells are oriented in different directions.
  • Laboratory studies may show evidence of hemolysis, such as low haptoglobin levels; a high reticulocyte count; and elevated concentrations of lactic dehydrogenase (LDH), indirect bilirubin, and urinary bilinogen. It is important to emphasize that the percentage of elliptocytes observed is not correlated to the severity of hemolysis.
  • Results of osmotic fragility test are within reference ranges in typical HE, but values are increased in spherocytic HE and HPP.
  • When tested for thermal stability, normal RBCs can withstand temperatures up to 49°C, but RBCs associated with HPP denature at 45-46°C.
  • If necessary, specialized laboratories can identify the underlying skeletal defects by quantifying membrane proteins, studying spectrin function, and performing molecular studies. Only rarely are such studies indicated.

Imaging Studies

  • Imaging studies are not needed in the diagnosis of HE, but can reveal findings consistent with chronic hemolysis, such as splenomegaly and gallstones.

Histologic Findings

Elliptocytes are observed on peripheral blood smears.

More on Elliptocytosis, Hereditary

Overview: Elliptocytosis, Hereditary
Differential Diagnoses & Workup: Elliptocytosis, Hereditary
Treatment & Medication: Elliptocytosis, Hereditary
Follow-up: Elliptocytosis, Hereditary
References
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References

  1. Delaunay J. Genetic disorders of the red cell membrane. Crit Rev Oncol Hematol. Jun 1995;19(2):79-110. [Medline].

  2. Delaunay J. Molecular basis of red cell membrane disorders. Acta Haematol. 2002;108(4):210-8. [Medline].

  3. Gallagher PG, Romana M, Wong C, Forget BG. Genetic basis of the polymorphisms of the alphaI domain of spectrin. Am J Hematol. Oct 1997;56(2):107-11. [Medline].

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

  5. Nicolas G, Pedroni S, Fournier C, et al. Spectrin self-association site: characterization and study of beta- spectrin mutations associated with hereditary elliptocytosis. Biochem J. May 15 1998;332(pt 1):81-9. [Medline].

  6. Palek J, Jarolim P. Clinical expression and laboratory detection of red blood cell membrane protein mutations. Semin Hematol. Oct 1993;30(4):249-83. [Medline].

  7. Silveira P, Cynober T, Dhermy D, et al. Red blood cell abnormalities in hereditary elliptocytosis and their relevance to variable clinical expression. Am J Clin Pathol. Oct 1997;108(4):391-9. [Medline].

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Further Reading

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Keywords

hereditary elliptocytosis, HE, elliptical red cells, Southeast Asian ovalocytosis, SAO, hereditary pyropoikilocytosis, HPP, elliptocytes, hemolytic anemia, folate deficiency, splenectomy

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Contributor Information and Disclosures

Author

Daniel J Kim, MD, Staff Physician, Department of Medicine, Olive View - UCLA Medical Center
Daniel J Kim, MD is a member of the following medical societies: American College of Physicians-American Society of Internal Medicine, American Medical Association, California Medical Association, Christian Medical & Dental Society, and Society of General Internal Medicine
Disclosure: Nothing to disclose.

Coauthor(s)

Leland D Powell, MD, PhD, Associate Clinical Professor of Medicine, David Geffen School of Medicine at UCLA; Consulting Staff, Department of Medicine, Olive View-UCLA Medical Center
Disclosure: Nothing to disclose.

Medical Editor

Karen Seiter, MD, Professor, Department of Internal Medicine, Division of Oncology/Hematology, New York Medical College
Karen Seiter, MD is a member of the following medical societies: American Association for Cancer Research, American College of Physicians, American Society of Clinical Oncology, and American Society of Hematology
Disclosure: Novartis Honoraria Speaking and teaching; Celgene Honoraria Speaking and teaching; Schering Honoraria Speaking and teaching

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Marcel E Conrad, MD, BS, (Retired) Distinguished Professor of Medicine, University of South Alabama
Marcel E Conrad, MD, BS is a member of the following medical societies: Alpha Omega Alpha, American Association for the Advancement of Science, American Association of Blood Banks, American Chemical Society, American College of Physicians, American Physiological Society, American Society for Clinical Investigation, American Society of Clinical Oncology, American Society of Hematology, Association of American Physicians, Association of Military Surgeons of the US, International Society of Hematology, Society for Experimental Biology and Medicine, and Southwestern Oncology Group
Disclosure: No financial interests None None

CME Editor

Rajalaxmi McKenna, MD, FACP, Consulting Staff, Department of Medicine, Southwest Medical Consultants, SC, Good Samaritan Hospital, Advocate Health Systems
Rajalaxmi McKenna, MD, FACP is a member of the following medical societies: American Society of Clinical Oncology, American Society of Hematology, and International Society on Thrombosis and Haemostasis
Disclosure: Nothing to disclose.

Chief Editor

Emmanuel C Besa, MD, Professor, Department of Medicine, Division of Hematologic Malignancies, Kimmel Cancer Center, Thomas Jefferson University
Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Clinical Oncology, American Society of Hematology, and New York Academy of Sciences
Disclosure: Nothing to disclose.

 
 
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