eMedicine Specialties > Hematology > Uncommon RBC Membrane Disorders

Pyropoikilocytosis, Hereditary

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

Introduction

Background

Hereditary pyropoikilocytosis is a severe form of congenital hemolytic anemia. It is clinically similar to, and now considered a subtype of, homozygous hereditary elliptocytosis. Hereditary pyropoikilocytosis is an autosomal recessive disorder that produces a molecular defect in spectrin and a partial spectrin deficiency. It manifests as a severe hemolytic anemia with thermal instability of the red blood cells. Current understanding suggests that this phenotype results when one parent has hereditary elliptocytosis and the other parent carries a gene that causes a spectrin deficiency. Hereditary pyropoikilocytosis results when both of these conditions occur in an individual's genetic makeup.

Pathophysiology

The severe anemia can result in growth retardation and early gallbladder disease.

Frequency

United States

Hereditary pyropoikilocytosis is a rare disorder that is mostly observed in people of African descent.

International

As in the United States, this is a rare disorder that is mostly observed in people of African descent.

Mortality/Morbidity

Morbidity and mortality are related to the severity of the anemia and its effects on the developing child. These effects include growth retardation, frontal bossing, and gallbladder disease.

Race

This disorder is mostly observed in people of African descent, but it has been documented in people of European and Arab descent.

Sex

Hereditary pyropoikilocytosis does not predominate in either sex because it is inherited as an autosomal recessive gene.

Age

The disorder is usually discovered in infancy or early childhood.

Clinical

History

An infant or young child presents with a transfusion-dependent hemolytic anemia that is moderately severe to severe. Family history most likely includes a parent or sibling with nonhemolytic hereditary elliptocytosis. The other parent likely has a previously undiagnosed spectrin deficiency.

Physical

Physical examination is remarkable for signs of anemia or, possibly, the effects of ongoing severe anemia, such as frontal bossing, growth retardation, or signs and symptoms of gallbladder disease. Splenomegaly may also be present.

Causes

Pyropoikilocytosis is a hereditary condition with an autosomal recessive mode of inheritance. One or both parents may exhibit nonhemolytic elliptocytosis. The red blood cells of patients with pyropoikilocytosis demonstrate thermal instability at temperatures as low as 45°C.

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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