Hereditary non-spherocytic hemolytic anemia with GPI mutations successfully treated with allogeneic hematopoietic stem cell transplantation: a first report of two cases.

Glucose phosphate isomerase (GPI) deficiency caused by GPI gene mutations is a rare heterogenous condition that causes hereditary non-spherocytic hemolytic anemia (HNSHA). Patients who suffer from severe anemia may need more effective treatment. Here, clinical data and genetic testing results of two cases of HNSHA with GPI mutations treated with allogeneic hematopoietic stem cell transplantation (allo-HSCT) were retrospectively analyzed. Specifically, two unrelated 6-year-old male patients with severe hemolytic anemia had hemoglobin (Hb) below the normal range despite frequent blood transfusions. Two novel missense mutations in the GPI gene were detected in them, respectively. They underwent peripheral blood stem cell (PBSC) transplantation successfully, and there was no anemia post-transplantation. In conclusion, HNSHA caused by mutations of the GPI gene is inherited in an autosomal recessive (AR) manner. Allo-HSCT offers an acceptable therapeutic efficacy and improvement of quality of life in HNSHA patients with GPI mutations. Our study expands the genetic spectrum of GPI deficiency. KEY MESSAGES: We reported for the first time that two cases of hereditary non-spherocytic hemolytic anemia with GPI mutations successfully treated with allogeneic hematopoietic stem cell transplantation (allo-HSCT). Two novel missense mutations in GPI gene were detected in each of the two cases, respectively, which were predicted to be pathogenic or damaging. Our study expands the genetic spectrum of GPI deficiency. Allo-HSCT offers an acceptable therapeutic efficacy and improvement of quality of life in HNSHA patients with GPI mutations.