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Hereditary Pyropoikilocytosis Follow-up

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

Further Outpatient Care

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  • Provide routine outpatient care and monitor hemoglobin if symptoms occur.
  • Maintain high suspicion for early involvement with gallbladder disease.
  • Iron chelation therapy may be required to prevent irreversible end-organ damage due to transfusion-induced hemosiderosis. Monitor the number of transfusions performed and the iron status of the patient to determine if and when this therapy is needed.
  • If a splenectomy has been performed, polyvalent pneumococcal polysaccharide vaccine (Pneumovax) therapy and prompt care of febrile illnesses is warranted.
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Further Inpatient Care

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  • Inpatient care of people with hereditary pyropoikilocytosis consists largely of transfusion requirements, care immediately after splenectomy, and treatment of illnesses that result from severe anemia or complications related to splenectomy.
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Inpatient & Outpatient Medications

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  • No specific medications are used to treat people with hereditary pyropoikilocytosis. The need for treatment with medications is patient-specific and based on individual complications.
  • Folic acid is often used to prevent folic acid deficiency that may occur as a result of increased erythropoiesis.
  • Iron chelation therapy may be necessary in patients who develop significant iron overload from red blood cell transfusions.
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Complications

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  • Most complications are related either to extended severe anemia with multiple resultant transfusions and iron toxicity to major organs or to infection with encapsulated organisms in patients who have undergone a splenectomy, although such infections are rare in patients who have been immunized against pneumococcus, Haemophilus influenzae, meningococcus, or a combination thereof.
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Prognosis

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  • 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.
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Patient Education

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  • Discuss with the patient's parents the possibility that they could bear another child with the same disease.
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Contributor Information and Disclosures
Author

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.

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.

References
  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].

  3. Christensen RD, Nussenzveig RH, Reading NS, Agarwal AM, Prchal JT, Yaish HM. Variations in both α-spectrin (SPTA1) and β-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis. Neonatology. 2014. 105 (1):1-4. [Medline].

  4. King MJ, Zanella A. Hereditary red cell membrane disorders and laboratory diagnostic testing. Int J Lab Hematol. 2013 Jun. 35(3):237-43. [Medline].

  5. 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. 1990 Jun 1. 75(11):2235-44. [Medline].

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

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

  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.

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Peripheral smear that shows evidence of hereditary pyropoikilocytosis.
 
 
 
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