Here we report the 4th Italian case of glucose phosphate isomerase (GPI) deficiency. The propositus is a young man suffering from chronic haemolytic anaemia since birth with occasional transfusion requirement. Biochemical characterization of the defective enzyme revealed increased affinity for F-6-P, decreased affinity for G-6-P and marked thermoinstability. Electrophoretic mobility appeared normal. GPI from both parents showed similar but less pronounced biochemical alterations. The variant described here seems to be different from those previously reported. Thus, we propose the provisional name of GPI 'Morcone'.
|Number of pages||4|
|Journal||European Journal of Haematology|
|Publication status||Published - 1994|
- congenital non-spherocytic haemolytic anaemia
- enzyme deficiency
ASJC Scopus subject areas