Clinical Exome Sequencing in Unexplained Hyperferritinemia Reveals Digenic and Oligogenic Inheritance Beyond Iron Homeostasis

Key Points

• The aim is to explore the genetic underpinnings of unexplained hyperferritinemia and assess the role of non-HFE genes.
• Utilized clinical exome sequencing for genetic analysis
• Focused on cases of unexplained hyperferritinemia
• Considered non-HFE gene involvement
• Examined potential digenic and oligogenic inheritance patterns
• Identified significant heterogeneity in genetic causes
• Observed frequent involvement of non-HFE genes
• Found evidence for digenic inheritance patterns beyond mere iron homeostasis