H63D Syndrome Research Consortium Announces Major Progress in Oshtoran Syndrome Research; Riku Honda Re-elected as Chairman

The biennial General Assembly of the H63D Syndrome Research Consortium took place last weekend, reaffirming Riku Honda, a distinguished Japanese biologist, as Chairman for another term.

H63D Syndrome - A rare but dangerous disease

H63D syndrome (www.H63D.org) is a rare condition resulting from a homozygous mutation of the HFE gene H63D. This syndrome is often underestimated by many physicians, despite its severe clinical consequences. Affected individuals typically exhibit either mild but non-reactive hypotransferrinemia and/or elevated transferrin saturation (TFsat) levels, leading to non-transferrin-bound iron (NTBI) overload in various organs and a spectrum of potentially dangerous systemic complications. It is not hemochromatosis, H63D patients have normal or even very low ferritin.

New hope for patients with Oshtoran Sydrome

Significant advancements were highlighted, especially in the study of Type 3, also known as Oshtoran Syndrome. This variant has shown promising results with several off-label medications proving effective in symptom management. These developments are particularly noteworthy given the recent discovery of this variant and its extreme symptom burden with fatal consequences.

The Chairman's message

In his brief closing speech, Chairman Riku Honda emphasized that it has been a tremendous success that several hundred doctors and biologists are working together voluntarily and internationally to continue researching the very rare clinical variety of a genetic defect. Without "big pharma" and also without political influence.

H63D Syndrome Research Consortium
Riku Honda, M.Sc.
東京都中野区中野 2-2-7-I
2-27-I Nakano, Nakano-ku, Tokyo
I64-8799
Japan / 日本

Phone: +972 3 3761091 (Callcenter)
team@H63D.org

The H63D Syndrome Research Consortium remains the largest global network of researchers, clinicians, and biologists dedicated to understanding and combating this rare but severe condition. For more information, please visit www.H63D.org

This release was published on openPR.