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Hereditary pyropoikilocytosis
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Hereditary pyropoikilocytosis

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Contributors: Nina Haghi MD, Benjamin L. Mazer MD, MBA, Carla Casulo MD, Paritosh Prasad MD
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Synopsis

Hereditary pyropoikilocytosis (HPP) is a severe subtype of hereditary elliptocytosis (HE) characterized by hemolytic anemia and jaundice that presents during the neonatal period and continues throughout life. It is marked by microspherocytosis, poikilocytosis, and unusual red cell thermal sensitivity.

HPP results from mutations in the genes encoding alpha-spectrin, beta-spectrin, and protein 4.1R that affect RBC membrane stability and deformability, leading to shortened RBC survival.

Blood smear will show numerous fragmented RBCs, severe microcytosis, and pyropoikilocytes that resemble the blood smears of thermal burn victims.

Patients present in the neonatal period with jaundice and ongoing hemolytic anemia resulting in transfusion dependence, splenomegaly, and/or gallstones. Aplastic crisis can occur due to parvovirus B19 infection.

HPP and other types of HE are most common in people of African, Mediterranean, or Southeast Asian descent.

For more information, see OMIM.

Codes

ICD10CM:
R71.8 – Other abnormality of red blood cells

SNOMEDCT:
9434008 – Hereditary pyropoikilocytosis

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Last Reviewed: 06/13/2018
Last Updated: 06/13/2018
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Hereditary pyropoikilocytosis
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Hereditary pyropoikilocytosis : Jaundice, Hemolytic anemia, Hyperbilirubinemia
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