Pyropoikilocytosis, Hereditary Workup

  • Author: Amanda D May, MD; Chief Editor: Emmanuel C Besa, MD   more...
 
Updated: Jan 26, 2007
 

Laboratory Studies

  • A complete blood count and a peripheral blood smear, like the one shown below, are the most important studies to obtain when testing for hereditary pyropoikilocytosis. A reticulocyte count and, possibly, other markers of hemolysis may be of use in these cases. Reticulocytosis should occur, depending on how well the patient's bone marrow is able to respond. The mean corpuscular volume (MCV), reported in femtoliters, may be as low as 25-55 fL. The peripheral blood smear of a patient with hereditary pyropoikilocytosis demonstrates bizarre forms, anisocytosis, fragments, micropoikilocytosis, microspherocytosis, and budding red blood cells. Peripheral smear that shows evidence of hereditaryPeripheral smear that shows evidence of hereditary pyropoikilocytosis.
  • Specialized hematology laboratories may also be able to perform both thermal sensitivity and osmotic fragility tests to confirm the diagnosis further. With this disorder, red blood cells should have thermal autohemolysis and increased osmotic fragility. Thermal sensitivity testing shows fragmentation of the red blood cells at temperatures as low as 45°C.
  • Monitor iron stores periodically to determine if iron chelation is required to prevent irreversible end-organ damage and dysfunction.
Next

Other Tests

  • Evaluate the ratio of spectrin to band 3 to determine the spectrin level so that this entity can be differentiated from homozygous hemolytic elliptocytosis.
Previous
Proceed to Treatment & Management
 
 
Contributor Information and Disclosures
Author

Amanda D May, MD  Assistant Fellowship Director, Chief, Section of Hematology/Oncology, Augusta VAMC; Assistant Professor of Medicine, Department of Internal Medicine, Division of Hematology/Oncology, Medical College of Georgia

Amanda D May, MD is a member of the following medical societies: American College of Physicians, American Medical Association, and Southern Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

Abdullah Kutlar, MD  Director of Sickle Cell Center, Fellowship Program Director, Professor, Department of Internal Medicine, Section of Hematology and Oncology, Medical College of Georgia

Abdullah Kutlar, MD is a member of the following medical societies: American Society of Hematology

Disclosure: Nothing to disclose.

Specialty Editor Board

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, and American Society of Hematology

Disclosure: Novartis Honoraria Speaking and teaching; Schering Honoraria Speaking and teaching; Cephalon Honoraria Speaking and teaching

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

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

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, and Southwest Oncology Group

Disclosure: No financial interests None None

Rajalaxmi McKenna, MD, FACP  Southwest Medical Consultants, SC, Department of Medicine, 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.

References

  1. Coetzer T, Palek J, Lawler J, et al. Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis. Blood. Jun 1 1990;75(11):2235-44. [Medline].

  2. Coetzer TL, Palek J. Partial spectrin deficiency in hereditary pyropoikilocytosis. Blood. Apr 1986;67(4):919-24. [Medline].

  3. Hoffman R, Benz EJ, Shattil SJ, eds. Hereditary pyropoikilocytosis. In: Hematology Basic Principles and Practice. New York, NY: Churchill Livingstone;2000:592.

  4. Lee GR, Foerster J, Lukens J, eds. Hereditary pyropoikilocytosis. In: Wintrobe's Clinical Hematology. Vol 1. Baltimore, Md: Williams & Wilkins;1999:1146-7.

  5. Stiene-Martin AE, Lotspeich-Steininger CA, Koepke JA, eds. Hereditary pyropoikilocytosis. In: Clinical Hematology: Principles, Procedures, Correlations. Lippincott Williams & Wilkins;1998:95, 257-8.

 
Previous
Next
 
Peripheral smear that shows evidence of hereditary pyropoikilocytosis.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
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.