eMedicine Specialties > Hematology > Uncommon RBC Membrane Disorders

Elliptocytosis, Hereditary: Follow-up

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

Follow-up

Prognosis

  • Most patients with hereditary elliptocytosis (HE) are asymptomatic.
  • Even those with clinically significant hemolysis have an excellent prognosis after splenectomy.

Patient Education

  • Patients should be informed about the autosomal dominant inheritance of the major types of HE.
  • In addition, despite the asymptomatic nature of the disease, family members can be encouraged to be screened for HE.

Miscellaneous

Medicolegal Pitfalls

  • Failure to diagnose the disease in a patient with clinically significant hemolysis can be the greatest pitfall. Simple peripheral smear in the appropriate clinical setting, along with thorough history taking and physical examination, can guide the clinician in the right direction.
  • In the converse, attributing hemolysis to HE, when the patient has a de novo hemolytic process superimposed on a chronic, clinically insignificant HE state, is another pitfall.
 


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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