Acanthocytosis & Diseases - 1
Deseases presenting with acanthocytosis:
Abetalipoproteinemia:
Steatorrhea in 1
st
month of life
Absence of LDL
Patient dies by age of 20 – 30 years
Mild anemia
Lipoprotein defects:
hypobetalipoproteinemia
Chylomicron retention disease
Neurological abnormalities based on severity of
lipoprotein deficiency
In(Lu) gene
Inhibitor of Lutheran (Lu
a
and Lu
b
) antigens
Normal to mild hemolytic anemia