Acanthocytosis Differential Diagnoses

Updated: Aug 29, 2017
  • Author: Pedro A de Alarcon, MD; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
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DDx

Diagnostic Considerations

Congenital conditions

McLeod red cell phenotype and CGD: The gene that controls Kx expression on RBCs is adjacent to the locus involved in CGD. Large deletions in this region may result in the appearance of both CGD and acanthocytic McLeod red cells. Although most patients with CGD do not have both ailments, those in whom both genes are affected have a mild hemolytic anemia. Large deletions around the XK locus may also cause McLeod syndrome to be accompanied with Duchenne muscular dystrophy, retinitis pigmentosa, and ornithine transcarbamylase deficiency. [13]

Acquired conditions

Echinocytes or Burr cells: Acanthocytes should be distinguished from echinocytes (from the Greek word echinos, which means urchin). These cells appear with multiple small projections that are uniformly distributed on the red cell surface. Echinocytes occur in many conditions, including malnutrition associated with mild hemolysis due to hypomagnesemia and hypophosphatemia, uremia, hemolytic anemia in long-distance runners, and pyruvate kinase deficiency. In vitro, elevated pH, blood storage, ATP depletion, calcium accumulation, and contact with glass can lead to formation of echinocytes.

Differential Diagnoses