H63D Syndrome Type-1: What you should know about it (2023)
Creators
- Shirazi, Ali1
- Honda, Riku2
- Rocha, Fabio2
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Ivanova, Olga3
- Balaskas, Alexandros3
- Adams, Jacobs S4
- Abbas, Mohammad5
- Wagner, Caroline6
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Seideman, David6
- Hausmann, Karin6
- Kaufmann, Marianne2
- Heil, Martin7
- Strelkov, Boris8
- Samaras, Efstathia9
- Walter, Karin10
- Williams, Joshua11
- Freudig, Alexander7
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Lazar, Marius12
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Diamandis, Carolina3
- 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
Files
H63D Syndrome Guideline 2023.pdf
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