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.

Abstract excerpt

Homozygous glucose phosphate isomerase (GPI) deficiency is one of the most important erythroenzymopathies causing hereditary non-spherocytic hemolytic anemia (HNSHA). We report an Indian patient with HNSHA showing 85 % reduction in GPI activity resulting from a homozygous missense replacement g.1459C > T in exon 16, leading to a substitution of the protein residue L487F mutation. This mutation has been detected...

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