see elliptocytosis [MIM 166 900]

Form of elliptocytosis, common in the Philippines and Malaysia. Autosomal recessive transmission of a mutation of the SLC4A1 gene (17q21.31) that codes for  band 3 protein or AE1 in the membrane of the red blood cell: it plays a role in the HCO3- and Cl- exchange at this level. In this form of so-called stomacytic elliptocytosis, red blood cells are not hypersensitive to heat.

Updated: February 2017