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.
RETIC: Normal to increased
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.