Hereditary hemochromatosis as potential target for ATH434 treatment

When you read from Wikipedia about hemochromatosis, it is immediately clear that at least some of these patients would need a safe iron chelator.

"Hereditary hemochromatosis type 1 (HFE-related Hemochromatosis)[3] is a genetic disorder characterized by excessive intestinal absorption of dietary iron, resulting in a pathological increase in total body iron stores.[4] Humans, like most animals, have no mechanism to regulate excess iron, simply losing a limited amount through various means like sweating or menstruating.[5][6][7]Excess iron accumulates in tissues and organs, disrupting their normal function. The most susceptible organs include the liver, heart, pancreas, skin, joints, gonads, thyroid and pituitary gland; patients can present with cirrhosis, polyarthropathy, hypogonadism, heart failure, or diabetes.[8]"

1 in 200 people in Norden Europe has this gene problem.

"

The more common clinical manifestations include:^{[8][14][15][16]}

• Fatigue
• Malaise
• Joint pain (mainly knee and hand)
• Abdominal pain
• Bronze or gray skin color (for this the illness was named "bronze diabetes" when it was first described by Armand Trousseau in 1865)
• Liver fibrosis or cirrhosis (with an increased risk of hepatocellular carcinoma): Liver disease is always preceded by evidence of liver dysfunction, including elevated serum enzymes specific to the liver, clubbing of the fingers, leuconychia, asterixis, hepatomegaly, palmar erythema, and spider naevi. Cirrhosis can also present with jaundice (yellowing of the skin) and ascites.
• Diabetes mellitus type 2: HH patients have insulin resistance for liver disease, and poor insulin secretion due to pancreatic damage from iron deposition.
• Erectile dysfunction and hypogonadism, resulting in decreased libido, amenorrhea
• Congestive heart failure, abnormal heart rhythms, or pericarditis
• Arthritis of the hands (especially the second and third metacarpophalangeal joints), but also the knee and shoulder joints
• Weight loss

Less common findings including:

• Memory loss
• Hair loss
• Splenomegaly
• adrenal insufficiency
• Deafness^[17]
• Dyskinesias, including Parkinsonian symptoms^[17][18][19]
• Dysfunction of certain endocrine organs:
  • Parathyroid gland (leading to hypocalcaemia)
  • Pituitary gland: secondary hypothyroidism, secondary hypogonadism
  • Adrenal gland"

Read more from Wikipedia: https://en.wikipedia.org/wiki/Hereditary_haemochromatosis