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Hereditary Pyropoikilocytosis Workup

  • Author: Abdullah Kutlar, MD; Chief Editor: Emmanuel C Besa, MD  more...
Updated: Dec 06, 2015

Laboratory Studies

See the list below:

  • 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.[4] See the image below.
    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.

Other Tests

See the list below:

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

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, Georgia Regents University

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

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.


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.

  1. 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].

  2. Da Costa L, Galimand J, Fenneteau O, Mohandas N. Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. Blood Rev. 2013 Jul. 27(4):167-78. [Medline].

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

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

Peripheral smear that shows evidence of hereditary pyropoikilocytosis.
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