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Hereditary Pyropoikilocytosis Clinical Presentation

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


An infant or young child presents with a transfusion-dependent hemolytic anemia that is moderately severe to severe. Family history most likely includes a parent or sibling with nonhemolytic hereditary elliptocytosis. The other parent likely has a previously undiagnosed spectrin deficiency.



Physical examination is remarkable for signs of anemia or, possibly, the effects of ongoing severe anemia, such as frontal bossing, growth retardation, or signs and symptoms of gallbladder disease. Splenomegaly may also be present.



Pyropoikilocytosis is a hereditary condition with an autosomal recessive mode of inheritance. One or both parents may exhibit nonhemolytic elliptocytosis. The red blood cells of patients with pyropoikilocytosis demonstrate thermal instability at temperatures as low as 45°C.

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.

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Peripheral smear that shows evidence of hereditary pyropoikilocytosis.
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