Publications by authors named "Marzie Amini"
Middle East J Dig Dis
April 2014
Article Synopsis
- Hereditary hemochromatosis (HH) is rare in Iran, and a family with severe juvenile hemochromatosis (JH) presents unique findings, with reported cases lacking HFE mutations.
- The study tracked siblings over three years, revealing two of them had clinical symptoms of JH, while the deceased brother had probable JH linked to findings of hyperpigmentation.
- Genomic analysis identified specific mutations in the HJV gene associated with JH and demonstrated the importance of molecular testing alongside MRI and liver stiffness monitoring for effective diagnosis and management of HH.
