Clinical manifestations and genetic spectrum of chronic hereditary nonspherocytic hemolytic anemia due to glucose-6-phosphate isomerase deficiency

Introduction: Glucose-6-phosphate isomerase (GPI) deficiency is a hereditary nonspherocytic hemolytic anemia with an autosomal recessive inheritance pattern.

Aim: to study the clinical and genetic data of patients with GPI deficiency.

Patients and methods: A single-center retrospective study analyzed medical records of patients under 18 years of age who were admitted to the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology in the period between 2018 to 2024. The analysis included 13 patients from 12 families, 2 girls and 11 boys, with a median age at diagnosis of 3.5 years.

Results: All patients had hemolytic anemia of different verity and 2 patients from the same family had neurological symptoms (epilepsy, tetraparesis, psychomotor retardation). Three patients underwent splenectomy due to high transfusion dependence, after which they showed improvement, but hemolysis was not completely stopped. A total of 14 different mutations in the GPI gene were identified, 8 of which had not been previously described. Their pathogenicity was determined using various algorithms.

Conclusion: GPI deficiency is characterized by high clinical variability, requiring an individualized approach to diagnosis and therapy. The obtained results confirm the importance of a comprehensive examination, including laboratory and genetic testing.

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