Red Cell Enzymopathies in Patients with Hemolytic Anemia in Southern Iran: Case Series

Abstract Background: Hereditary red cell enzyme disorders are a group of Non-immune/Spherocytic Hemolytic Anemia, although these disorders are rare and they have not public health problems, the detection of these defects could help to physician in treatment and differential diagnosis. This study evaluated 5 enzymopathies in patients with Hereditary Non –immune/Spherocytic Hemolytic Anemia (HNSHA) during one year. Materials and Methods: This cross-sectional study, evaluated 5 erythrocyte enzymes in 22 patients (mean age of 10 ± 9.3) with Hereditary Non-immune/ Spherocytic Hemolytic Anemia in Southern Iran from Jan 2014- Feb 2015. Evaluated erythrocyte enzymes consisted of pyruvate kinase (PK), G6PD, Catalase, Glutathion Proxidase( GP) and Glutathion Reductase( GR), all of these enzymes checked by quantitative assay except G6PD that evaluated by qualitative activity assay. The clinical and para clinical data were gathered from patient’s documents. Results: Results showed that 2 patients were PK deficient (9.1 %), 4 patients were G6PD deficient (18.2%), 1patient was GP deficient (4.5%), 1 patient was Catalase deficient (4.5%) and there is no patient with GR deficiency. Conclusion: This study showed that enzymopathies should be into consideration in patients with non-immune hemolytic anemia, if other common causes of hemolysis such as hemoglobinopathies and membranopathies have been excluded.