GPI MOUNT-SCOPUS - A VARIANT OF GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY

Glucosephosphate isomerase (GPI) deficiency is an unusual cause of-her editary nonspherocytic hemolytic anemia. The disease, inherited as an autosomal recessive disorder, is most often manifested by symptoms and signs of chronic hemolysis, ameliorated by splenectomy. We recently d iagnosed GPI deficiency in a 23-year-old Ashkenazi Jewish man who disp layed the typical clinical course of this disorder. The biophysical ch aracteristics of the GPI variant are slow electrophoretic mobility, pr esence of only one of the two bands normally present, and extreme ther molability. To the best of our knowledge, this is the first report of GPI deficiency in a patient of Jewish descent, and we propose to desig nate this enzyme variant ''GPI Mount Scopus''.