Autosomal dominant transmission of mutations that cause a leak of cations at the level of the red blood cells membrane.

There are 2 forms:

-        dehydrated form or xerocytosis, the most frequent: moderate anemia and acanthocytes in the blood smear. Mutation in FAM8A gene (14q24.2). Potassium and water leakage.

-        hyperhydrated form: hemolytic anemia

Anesthetic implications:

check total blood count

References :

-        Da Costa L, Galimand J, Fenneteau O, Mohandas N.
Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders.
Blood Reviews 2013; 27: 167-78

Updated: February 2017