51 Hereditary Acanthocytosis (Abetalipoproteinemia)

Michelle To and Valentin Villatoro

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.

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A Laboratory Guide to Clinical Hematology by Michelle To and Valentin Villatoro is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License, except where otherwise noted.

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