Hereditary pyropoikilocytosis

Definition:

Hereditary pyropoikilocytosis (HPP) is a recessively inherited form of hemolytic anemia characterized by peripheral blood morphology presenting with striking anisopoikilocytosis with red cell fragmentation and microspherocytes. Erythrocytes from most HPP patients exhibit qualitative and quantitative abnormalities of the erythrocyte membrane protein spectrin, the principal structural component of the erythrocyte membrane skeleton. Qualitative spectrin defects are typically associated with missense mutations that lead to abnormal spectrin self-association, a process critical for membrane structure and function.

References:

[1]. Maria C Ramos, et al. Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia. J Pediatr Hematol Oncol. 2007 Feb;29(2):128-9. [Content Brief]

[2]. Whitney Tolpinrud, et al. Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis. Haematologica. 2008 Nov;93(11):1752-4. [Content Brief]

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