Hereditary Pyropoikilocytosis
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Hereditary pyropoikilocytosis (HPP) is an autosomal recessive disorder of the red blood cell (RBC) membrane that is clinically related to, and is considered a subtype of, hereditary elliptocytosis (HE). HPP involves a functional defect in spectrin, which is the major cytoskeletal protein of the RBC cell membrane. It manifests as a severe hemolytic anemia with thermal instability of the red blood cells. (See Presentation and Workup.)
Patients with HPP who develop severe hemolytic anemia require transfusion of packed red blood cells. Folate supplementation is also necessary in chronic hemolytic disease. In the acute care setting, supportive measures (eg, intravenous fluids, oxygen, monitoring of blood counts) are provided according to the needs of the individual patient. (See Treatment.)
Hereditary pyropoikilocytosis (HPP) is a disease emanating from a defect in spectrin, which is the major peripheral protein of the red blood cell (RBC) membrane. This blood disorder is characterized by an RBC morphology similar to that seen in patients suffering from extensive burns—hence the term pyropoikilocytes.
HPP is considered a subtype of the more common disorder hereditary elliptocytosis (HE). HPP is characterized by an abnormality in both horizontal (spectrin self association defect) and vertical (spectrin deficiency) RBC membrane protein interaction. This results in severe hemolytic anemia as the RBC’s lipid membrane destabilizes and loses its abilty to withstand intravascular shear stress.
Hereditary pyropoikilocytosis (HPP) is subtype of hereditary elliptocytosis (HE), a red blood cell (RBC) membrane disorder that results from mutations in the genes encoding α-spectrin (SPTA1), β-spectrin (SPTB), or protein 4.1R (EPB41). HE is caused by monoallelic (heterozygous) mutations and inherited in an autosomal dominant fashion, while HPP has an autosomal recessive inheritance and is typically caused by biallelic (homozygous or compound heterozygous) mutations. [1]
Hereditary pyropoikilocytosis (HPP) is a rare cause of severe hemolytic anemia. Up to a third of family members of patients with HPP have hereditary elliptocytosis (HE).
HPP is mostly observed in people of African descent, but it has been documented in people of European and Arab descent. It has no gender predominance. The disorder is usually discovered in infancy or early childhood when the affected person presents with severe hemolytic anemia. These patients can present with classic HE later in life.
Prognosis is related to the number of transfusions needed to maintain adequate hemoglobin levels for a growing child and the ability to treat or to prevent life-threatening infections after splenectomy. Most complications are related to extended severe anemia with multiple resultant transfusions and iron toxicity to major organs. Complications similar to those of the more common disorder hereditary spherocytosis (HS) are generally related to chronic hemolysis and include the following:
Patients who have undergone splenectomy are susceptible to infection with encapsulated organisms, but such infections are rare in patients who have been immunized against pneumococcus, Haemophilus influenzae, and meningococcus.
For patient education information, see Blood Transfusion. Discuss with the patient’s parents the possibility that they could bear another child with the same disease.
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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. [Medline].
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King MJ, Zanella A. Hereditary red cell membrane disorders and laboratory diagnostic testing. Int J Lab Hematol. 2013 Jun. 35(3):237-43. [Medline].
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]. [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. [Medline]. [Full Text].
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Nellowe C Candelario, MD Attending Physician, Department of Internal Medicine, Einstein Medical Center
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.
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.
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.
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, Georgia Regents University
Abdullah Kutlar, MD is a member of the following medical societies: American Society of Hematology
Disclosure: Nothing to disclose.
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.
Hereditary Pyropoikilocytosis
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