9.4: Hereditary Acanthocytosis (Abetalipoproteinemia)

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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

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.