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Genetic and Rare Diseases Information Center (GARD)

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What causes acanthocytosis?

Most forms of acanthocytosis are associated with abnormalities in the number of lipids in the membrane of red blood cells. In rare instances, abnormalities in the proteins or skeleton of the red blood cell have also been detected. [1] The imbalance in membrane lipids causes cells to stiffen, wrinkle, pucker, and form projectives.  In membrane protein or skeletion abnormalities, the detect is intrinsic, but arises due to imbalances. [2] Acanthocytosis associated with abetalipoproteinemia or severe liver dysfunction is typically caused by abnormalities in red blood cell membrane lipids, while acanthocytosis associated with neuroacanthocytosis, McLeod syndrome, chorea-acanthocytosis syndromes, and other rare syndromes can be attributed to changes in the proteins or skeleton of red blood cell membrane. [2][1] 
Last updated: 11/1/2013

  1. Steinberg MH, Benz Jr. EJ, Adewoye HA, Ebert B. Chapter 28: Pathobiology of the Human Erythrocyte and Its Hemoglobins. Section: Acanthocytosis, Stomatocytosis, and Bilayer Couple Hypothesis. Hoffman: Hematology: Basic Principles and Practice, 4th ed.. Philadelphia, PA: Churchill Livingstone, An Imprint of Elsevier; 2005;
  2. de Alarcon PA. Acanthocytosis. Medscape Reference. November 30, 2011; Accessed 11/1/2013.