Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous for the L487F mutation in the human GPI gene
International Journal of Hematology, 07/17/2012
Warang P et al. – The enzyme is present in a dimeric form necessary for normal activity; the L487F mutation causes a loss of the ability of glucose phosphate isomerase (GPI) to dimerize, which decreases the thermostability of the enzyme and results in significant changes in erythrocyte metabolism.
