51 Hereditary Acanthocytosis (Abetalipoproteinemia)
Michelle To and Valentin Villatoro
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- An image from a peripheral blood smear showing acanthocytes and other poikilocytosis. Hereditary acanthocytosis would typically show acanthocytes as the main red blood cell abnormality. From MLS Collection, University of Alberta, https://doi.org/10.7939/R31J97P8T
Mutation:1,2
Microsomal triglyceride transfer protein (MTP) gene mutation that results in a lack of apolipoprotein B. An increase in sphingomyelin concentration in the RBC membrane leads to increased membrane rigidity and acanthocyte formation.
Inheritance:,1,2
Autosomal recessive
Laboratory Results:,1,2
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CBC: MCV: Normal MCH: Normal MCHC: Normal RETIC: Normal to increased |
PBS: Acanthocytes |
Hereditary Acanthocytosis References:
1. Cochran-Black D. Hemolytic anemia: membrane defects. In: Clinical laboratory hematology. 3rd ed. New Jersey: Pearson; 2015. p. 317-33.
2. Keohane EM. Intrinsic defects leading to increased erythrocyte destruction. In: Rodak’s hematology clinical applications and principles. 5th ed. St. Louis, Missouri: Saunders; 2015. p. 367–93.
