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Hereditary Elliptocytosis Medication

  • Author: Daniel J Kim, MD, MS; Chief Editor: Emmanuel C Besa, MD  more...
 
Updated: Feb 09, 2016
 
 

Medication Summary

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.

 
 
Contributor Information and Disclosures
Author

Daniel J Kim, MD, MS Staff Physician, Department of Medicine, Olive View-UCLA Medical Center

Daniel J Kim, MD, MS is a member of the following medical societies: American College of Physicians-American Society of Internal Medicine, American Medical Association, American Society of Hematology, California Medical Association, Christian Medical and Dental Associations, American Society of Clinical Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Marcel E Conrad, MD Distinguished Professor of Medicine (Retired), University of South Alabama College of Medicine

Marcel E Conrad, MD 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 Hematology, Association of American Physicians, Association of Military Surgeons of the US, International Society of Hematology, Society for Experimental Biology and Medicine, SWOG

Disclosure: Partner received none from No financial interests for none.

Chief Editor

Emmanuel C Besa, MD Professor Emeritus, Department of Medicine, Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American Society of Clinical Oncology, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, New York Academy of Sciences

Disclosure: Nothing to disclose.

Additional Contributors

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 Hematology

Disclosure: Received honoraria from Novartis for speaking and teaching; Received consulting fee from Novartis for speaking and teaching; Received honoraria from Celgene for speaking and teaching.

Acknowledgements

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.

References
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  2. Harper SL, Sriswasdi S, Tang HY, Gaetani M, Gallagher PG, Speicher DW. The common hereditary elliptocytosis-associated a-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation. Blood. 2013 Aug 23. [Medline].

  3. Christensen RD, Nussenzveig RH, Reading NS, Agarwal AM, Prchal JT, Yaish HM. Variations in both α-spectrin (SPTA1) and β-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis. Neonatology. 2014. 105 (1):1-4. [Medline].

  4. Keklik M, Unal A, Sivgin S, Kontas O, Eroglu E, Yilmaz S, et al. The coincidence of familial mediterranean Fever and hypereosinophilia in a patient with hereditary elliptocytosis. Indian J Hematol Blood Transfus. 2014 Sep. 30 (Suppl 1):138-41. [Medline].

  5. King MJ, Garçon L, Hoyer JD, Iolascon A, Picard V, Stewart G, et al. ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders. Int J Lab Hematol. 2015 Jun. 37 (3):304-25. [Medline].

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  8. Da Costa L, Suner L, Galimand J, Bonnel A, Pascreau T, Couque N, et al. Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer. Blood Cells Mol Dis. 2016 Jan. 56 (1):9-22. [Medline].

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

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

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

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

  13. 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. 1998 May 15. 332(pt 1):81-9. [Medline].

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