eMedicine Specialties > Hematology > Uncommon RBC Membrane Disorders

Pyropoikilocytosis, Hereditary: Follow-up

Author: 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
Coauthor(s): 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
Contributor Information and Disclosures

Updated: Jan 26, 2007

Follow-up

Further Inpatient Care

  • 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.

Further Outpatient Care

  • 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.

Inpatient & Outpatient Medications

  • 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.

Complications

  • 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.

Prognosis

  • 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.

Patient Education

  • Discuss with the patient's parents the possibility that they could bear another child with the same disease.

Miscellaneous

Medicolegal Pitfalls

  • Failure to diagnose hereditary pyropoikilocytosis properly
  • Failure to counsel the patient's parents on the likelihood of bearing another child with the same disorder
  • Failure to treat transfusion-induced hemosiderosis appropriately

Special Concerns

  • Hereditary pyropoikilocytosis is a genetically linked disorder. Family pedigrees are helpful in determining who is at risk to have a child with this entity.
 


More on Pyropoikilocytosis, Hereditary

Overview: Pyropoikilocytosis, Hereditary
Differential Diagnoses & Workup: Pyropoikilocytosis, Hereditary
Treatment & Medication: Pyropoikilocytosis, Hereditary
Follow-up: Pyropoikilocytosis, Hereditary
Multimedia: Pyropoikilocytosis, Hereditary
References
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References

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

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

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

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

  5. 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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Further Reading

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Keywords

hereditary pyropoikilocytosis, congenital hemolytic anemia, homozygous hereditary elliptocytosis, partial spectrin deficiency, growth retardation, frontal bossing, gallbladder disease, irregular red blood cells, severe anemia, abnormal red blood cell morphology, splenectomy, low hemoglobin level, nonhemolytic hereditary elliptocytosis, spectrin deficiency, autosomal recessive gene

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Contributor Information and Disclosures

Author

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.

Coauthor(s)

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
Abdullah Kutlar, MD is a member of the following medical societies: American Society of Hematology
Disclosure: Nothing to disclose.

Medical Editor

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 Clinical Oncology, and American Society of Hematology
Disclosure: Novartis Honoraria Speaking and teaching; Celgene Honoraria Speaking and teaching; Schering Honoraria Speaking and teaching

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Marcel E Conrad, MD, BS, (Retired) Distinguished Professor of Medicine, University of South Alabama
Marcel E Conrad, MD, BS 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 Clinical Oncology, 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, and Southwestern Oncology Group
Disclosure: No financial interests None None

CME Editor

Rajalaxmi McKenna, MD, FACP, Consulting Staff, Department of Medicine, Southwest Medical Consultants, SC, Good Samaritan Hospital, Advocate Health Systems
Rajalaxmi McKenna, MD, FACP is a member of the following medical societies: American Society of Clinical Oncology, American Society of Hematology, and International Society on Thrombosis and Haemostasis
Disclosure: Nothing to disclose.

Chief Editor

Emmanuel C Besa, MD, Professor, Department of Medicine, Division of Hematologic Malignancies, Kimmel Cancer Center, Thomas Jefferson University
Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Clinical Oncology, American Society of Hematology, and New York Academy of Sciences
Disclosure: Nothing to disclose.

 
 
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