Published June 2, 2023 | Version 17.9
Journal article Open

H63D Syndrome Type-1: What you should know about it (2023)

Authors/Creators

  • 1. Milad Medical
  • 2. H63D Consortium
  • 3. LCG Greece
  • 4. Adams Research
  • 5. Ministry or Health (I.R.I.)
  • 6. JUC Denver
  • 7. Swabian Research
  • 8. IVM St. Petersburg
  • 9. MoH Cyprus
  • 10. Institut Prof. Martin Gangnon
  • 11. JUC
  • 12. Luzia Healthcare Society

Description

In most practices, clinics and professional societies, a homozygous H63D gene mutation was and is generally considered relatively harmless, since carriers of this mutation very rarely develop classic ferritin-related hemochromatosis. Ferritin levels are usually normal or even rather low in these patients, so everything seems fine. Due to the fragmentation of medicine into many specialties, on a meta-level, hardly anyone has noticed that people with a homozygous H63D mutation can develop a very severe disease, H63D Syndrome. The key to understanding the phenotype is non- transferrin-bound iron, or NTBI. H63D Syndrome is a separate phenotype (clinical picture) of a homozygous mutation of the HFE gene H63D, which is otherwise known to cause at best a mild classical hemochromatosis. H63D syndrome, however, is not just another type of hemochromatosis, it is a serious syndrome caused by non- transferrin bound iron (NTBI) which is the result of an elevated transferrin saturation (50-100%) due to hypotransferrinemia which is the consequence of a homozygous mutation of HFE gene H63D.

Notes

Peer-review completed on March 14th, 2023

Files

H63D Syndrome Guideline 2023.pdf

Files (316.2 kB)

Name Size Download all
md5:181c3a83cad2300b8ba6fe0f0b348147
316.2 kB Preview Download