Knowing that the research of H63D Syndrome will not be funded, we have formed an international scientific non-profit consortium. The goal of our work at the highest clinical level is to further research the syndrome and to make this knowledge available to the public.
Although H63D Syndrome is a rare disease, with over seven billion people on earth it is a disease with high case numbers. It is also a disease that far too few doctors know about.
This must change, because you can only diagnose what you know.
Oslo, Norway
December 2019
We are deeply dismayed by the fact that there are still people who argue just because of a term. Of course, “H63D Syndrome” is de facto a syndrome due to oxidative processes based on NTBI overload in vulnerable body cells of patients with a homozygous mutation in HFE gene H63D which can lead to organ dysfunction and organ damage.
Would you understand that? Really?
It's 2020, the year of H63D awareness, and of course you have to use terms that can be understood by a normal person. So, to all these laypeople and colleagues who think they know it better: Please be silent and don’t bother suffering individuals who need to know the most recent status of research by frightening them with your outdated knowledge or personal agenda.
Dr. Boris Dimitrov, Biologist, Sankt Petersburg
for the International H63D Syndrome Research Consortium
NTBI
cannotfalse-negative for iron overload
The H63D syndrome is actually very easy to
diagnose:
If a quite young person has complex neuropsychiatric symptoms
(possibly with a hyperechogenicity of the substantia nigra in
transcranial ultrasound) as well as a heart condition and
abnormalities of the liver and/or testicles together with a
transferrin saturation of >55% (“grey zone” 40%-54%), an HFE
genetic test is obligatory. If this shows a homozygous mutation of
the HFE gene H63D in the above-mentioned constellation of findings,
the most likely diagnosis is H63D syndrome.