A new variant of G6PD with total enzyme deficiency associated with nonspherocytic hemolytic anemia in a 60 year old Frenchman is characterized. Partially purified enzyme revealed slow electrophoretic mobility, decreased G6P affinity, thermal instability, abnormal pH curve with a single peak at pH 5.0, abnormal utilization of 2-deoxy-G6P and deamino NADP. This variant differs from all previously reported variants associated with chronic nonspherocytic hemolytic anemia. Accordingly this variant is designated Gd(-) Rennes.
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Article Synopsis
- Pyruvate kinase deficiency (PKD) is a rare genetic disorder that leads to various symptoms like fetal anemia and chronic hemolytic anemia due to mutations in a specific gene.
- Successful allogeneic hematopoietic stem cell transplants (allo-HSCT) have been reported in a few cases, but there's limited experience overall.
- The study presents two successful cases of allo-HSCT using a modified treatment approach, suggesting it can effectively eliminate severe transfusion dependence in PKD patients and help them lead normal lives.
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