New Syndrome: seemingly unrelated symptoms have a common cause in patients with H63D homozygous mutation

The International H63D Mutation Research Consortium www.h63d-syndrome.org has announced the discovery of "Typ-2 H63D Syndrome", a genetic disease caused by a homozygous mutation of the HFE gene H63D. The research work, which spanned 12 years, uncovered that the mutation is responsible for a wide range of symptoms due to micro-inflammations, which can be challenging to diagnose without the proper knowledge and testing.

While classic Typ-1 H63D Syndrome is a rare disorder that affects a person's ability to regulate iron absorption and distribution in their body, leading to a buildup of excess toxic NTBI iron in vital organs, in Type-2 the condition can manifest itself in a broad variety of symptoms, including joint pain, fatigue, fatty liver, diabetes types 2 and 3 as well as skin conditions and many other sequelae via pro-inflammatory pathways. Because these symptoms can appear seemingly unrelated, diagnosis of the disease can be challenging and often delayed.

The Consortium's research has established a clear link between the H63D mutation and the wide range of symptoms associated with Typ-2 H63D Syndrome. By studying the genetics of affected individuals, the Consortium has been able to identify a common genetic factor linking the seemingly unrelated symptoms.

The lead researchers of the non-profit Consortium, commented on the groundbreaking discovery, saying, "We are thrilled to finally unravel the mystery behind Typ-2 H63D Syndrome. The discovery of a single-gene disorder causing such diverse symptoms is remarkable and will provide important insights into other complex diseases. This discovery will pave the way for new diagnostic and therapeutic approaches, which could significantly improve the quality of life for those affected by this disease."

The Consortium's work will provide critical insights for healthcare providers, who can now screen for the H63D mutation to diagnose patients with Typ-2 H63D Syndrome more accurately. Moreover, early diagnosis and intervention can help prevent severe complications and improve long-term outcomes for individuals with the disease.

The International H63D Mutation Research Consortium consists of an international team of more than 90 researchers and medical experts dedicated to the study of the H63D homozygous mutation and its effects on human health. The Consortium's work in this field has been ongoing for over a decade, leading to significant contributions to our understanding of genetic disorders.

For more information, visit www.h63d-syndrome.org free of any charge.

Chairman: Riku Honda (Osaka, Japan)
Spokesperson: Dr. Alexander Bartels (EU)
Team Manager H63D Type-2: Dr. Fabio Rocha

c/o LCG Group
16 Kifissias Ave
115 26 Athens
European Union

h63d@privatedoc.org

+30 21 123427-47

Learn more at www.h63d-syndrome.org

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This release was published on openPR.