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.
Epidemiology
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.
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].
Coetzer TL, Palek J. Partial spectrin deficiency in hereditary pyropoikilocytosis. Blood. Apr 1986;67(4):919-24. [Medline].
Hoffman R, Benz EJ, Shattil SJ, eds. Hereditary pyropoikilocytosis. In: Hematology Basic Principles and Practice. New York, NY: Churchill Livingstone;2000:592.
Lee GR, Foerster J, Lukens J, eds. Hereditary pyropoikilocytosis. In: Wintrobe's Clinical Hematology. Vol 1. Baltimore, Md: Williams & Wilkins;1999:1146-7.
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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