eMedicine Specialties > Hematology > Uncommon RBC Membrane Disorders

Pyropoikilocytosis, Hereditary: Treatment & Medication

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

Treatment

Medical Care

Treatment of hereditary pyropoikilocytosis includes transfusion of packed red blood cells and other supportive care. Supportive care encompasses intravenous fluids, oxygen, and monitoring in an acute care setting as determined by the needs of the individual patient. Further treatments such as medications or surgical procedures vary among patients, depending on their individual needs and other concurrent problems.

Surgical Care

Splenectomy has been shown to improve anemia but has no effect on abnormal red blood cell morphology.

Diet

No dietary restrictions are necessary for people with hereditary pyropoikilocytosis. However, at some point, hemolysis and increased erythrocyte production by the bone marrow may necessitate folic acid supplements.

Activity

Activity is limited only in relation to the severity of the anemia and its effects on other organ systems.

Medication

No specific medications are used to treat hereditary pyropoikilocytosis. Individual patients may require treatment with medications such as intravenous fluids or oxygen on a patient-specific basis. Other related conditions can arise that may require treatment with medications specific to the situation, but medications do not affect the underlying disorder. Folic acid is often used because of the relative or absolute folate deficiency that often occurs in patients with chronic hemolysis and increased erythropoiesis by the bone marrow.

Vitamins

A folate deficiency can develop because of the high turnover rate in the erythroid line and subsequent use of substrate. Replacement is often necessary. This is easily accomplished with an oral dose of 1 mg/d.


Folate (Folvite)

Important cofactor for enzymes used in production of red blood cells. A folate deficiency can develop because of the high turnover rate in the erythroid line and subsequent use of substrate.

Adult

1 mg/d PO/IM/SC

Pediatric

Administer as in adults

Increase in seizure frequency and decrease in subtherapeutic levels of phenytoin reported when used concurrently

Pregnancy

A - Safe in pregnancy

Precautions

Folate may cause anorexia, nausea, abdominal pain, flatulence, altered sleep patterns, irritability, overactivity, erythema, rash, or itching; benzyl alcohol may be contained in some products as a preservative (associated with a fatal gasping syndrome in premature infants); resistance to treatment may occur in patients with alcoholism and deficiencies of other vitamins

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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