History

Hereditary pyropoikilocytosis (HPP) is considered the most severe type of hereditary elliptocytosis (HE) and manifests during infancy. HP is generally recognized when an infant or young child presents with a transfusion-dependent hemolytic anemia. The family history typically includes nonhemolytic hereditary elliptocytosis in a parent or sibling. The other parent likely has a previously undiagnosed spectrin deficiency. Most patients are of African origin, though cases have been reported in people of Arabian or Caucasian descent.

Physical Examination

Physical examination is remarkable for signs of anemia. Prolonged neonatal jaundice has been reported.^{[2, 3, 4]} Signs of extramedullary hematopoiesis such as frontal bossing and splenomegaly could be appreciated. Affected children can have growth retardation. The chronic hemolytic disease can be complicated by gallbladder disease.

Differential Diagnoses

Niss O, Chonat S, Dagaonkar N, Almansoori MO, Kerr K, Rogers ZR, et al. Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. Blood Cells Mol Dis. 2016 Oct. 61:4-9. [QxMD MEDLINE Link]. [Full Text].
Bahr TM, Lozano-Chinga M, Agarwal AM, Meznarich JA, Gerday E, Smoot JL, et al. Dizygotic twins with prolonged jaundice and microcytic, hypochromic, hemolytic anemia with pyropoikilocytosis. Blood Cells Mol Dis. 2020 Nov. 85:102462. [QxMD MEDLINE Link].
Suzuki T, Togawa T, Kanno H, Ogura H, Yamamoto T, Sugiura T, et al. A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome. J Pediatr Hematol Oncol. 2021 Mar 1. 43 (2):e250-e254. [QxMD MEDLINE Link].
Bobée V, Daliphard S, Lahary A. Hereditary pyropoïkilocytosis diagnosis in an infant: benefit of histograms and peripheral smear review. Ann Biol Clin (Paris). 2020 Jun 1. 78 (3):343. [QxMD MEDLINE Link].
[Guideline] 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. [QxMD MEDLINE Link]. [Full Text].
King MJ, Zanella A. Hereditary red cell membrane disorders and laboratory diagnostic testing. Int J Lab Hematol. 2013 Jun. 35(3):237-43. [QxMD MEDLINE Link].
He Y, Jia S, Dewan RK, Liao N. Novel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing. Gene. 2017 Sep 5. 627:556-562. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link]. [Full Text].
Llaudet-Planas E, Vives-Corrons JL, Rizzuto V, Gómez-Ramírez P, Sevilla Navarro J, Coll Sibina MT, et al. Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders. Int J Lab Hematol. 2018 Feb. 40 (1):94-102. [QxMD MEDLINE Link]. [Full Text].
Gallagher PG. Red cell membrane disorders. Hematology Am Soc Hematol Educ Program. 2005. 13-8. [QxMD MEDLINE Link].

Media Gallery

Peripheral smear that shows evidence of hereditary pyropoikilocytosis.

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Author

Nellowe C Candelario, MD Fellow in Hematology/Medical Oncology, University of Colorado School of Medicine

Nellowe C Candelario, MD is a member of the following medical societies: American College of Physicians, American Medical Association, 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.

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 at Augusta University

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

Disclosure: Nothing to disclose.

Acknowledgements

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.