Clinical and molecular correlation of hepcidin RNA expression in sickle cell patients with iron overload

Abstract EN

Background/aim Iron overload is the main concern in treatment of hemolytic diseases with repeated blood transfusion, especially sickle cell disease (SCD).

Hepcidin has appeared as the key iron metabolism regulator.

Erythroferrone (ERFE) is postulated to function as the chief erythroid regulator.

Transferrin receptor 2 (TfR2) acts as an iron sensor on erythroid cells.

Our aim is to evaluate serum levels of hepcidin, ferritin, ERFE, and TfR2 and its correlation with molecular genetic study of hepcidin gene expression for SCD patients Patients and methods Patients: 103 children aged 6–18 years with SCD were recruited from the Pediatric Hematology Clinic at the National Research Center and Abo-Elrish Hospital (Cairo University), and 55 healthy children with matched age and sex served as the control group.

Methods: laboratory analysis and enzyme-linked immunosorbent assay tests on patient samples were performed for serum hepcidin, ERFE, ferritin and TfR2, and hepcidin gene expression was performed by quantitative real-time PCR.

Results Hepcidin RNA expression level showed significant correlation with the duration of the disease and blood transfusion frequency (r=−0.33, P<0.001) (r=−0.270, P 0.006), respectively.

Conclusion Combination of enzyme-linked immunosorbent assay and molecular studies of hepcidin RNA expression could be a diagnostic marker to be used in conjunction with analytical techniques to detect iron overload in pediatric sickle cell disease.