eMedicine Specialties > Hematology > Uncommon RBC Membrane Disorders

Elliptocytosis, Hereditary: Treatment & Medication

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

Treatment

Medical Care

Most patients with hereditary elliptocytosis (HE) do not require medical treatment. A diet rich in folic acid or folic acid supplementation is recommended to avoid consequences of folate deficiency in a hemolytic state. Other supportive measures, such as blood transfusions, may be indicated if the anemia is severe.

Surgical Care

Because the spleen is the site for erythrocyte destruction, splenectomy markedly improves anemia for patients with clinically significant hemolysis. Splenectomy stops or markedly reduces hemolysis that results from HE but does not correct the underlying membrane defect. As with splenectomy for other indications, the pneumococcal, meningococcal, and Haemophilus influenzae vaccines should be administered before surgery.

Consultations

  • Consultation with a general surgeon is indicated if considering splenectomy in a patient with clinically significant uncompensated hemolysis.
  • Consultation with a genetic counselor is helpful to explain the genetic nature and implications of this disease to immediate family members.

Diet

A diet with adequate folic acid (green leafy vegetables) or folic acid supplements is advisable to prevent folate deficiency.

Medication

No specific medical therapy is indicated for this disease, especially because most patients with HE are asymptomatic. For patients with clinically significant hemolysis, splenectomy markedly improves the hemolytic anemia.

More on Elliptocytosis, Hereditary

Overview: Elliptocytosis, Hereditary
Differential Diagnoses & Workup: Elliptocytosis, Hereditary
Treatment & Medication: Elliptocytosis, Hereditary
Follow-up: Elliptocytosis, Hereditary
References
[ CLOSE WINDOW ]

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].

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

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

[ CLOSE WINDOW ]

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.

 
 
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.