HEMOCHROMATOSIS (Syllabus: GS Paper 3 – Sci & Tech -Diseases)

Context: Recently, health experts revealed all about Hemochromatosis or ‘bronze diabetes’.

Hemochromatosis

• About: Hemochromatosis is an inherited condition characterised by the gradual accumulation of iron over many years.
• Types of Hemochromatosis: Hereditary: This type is driven by a mutation in the HFE gene, leading to individuals being homozygous for the C282Y variant.

oThis genetic anomaly results in a lifelong struggle with excessive iron absorption in the intestines.

• Secondary Hemochromatosis: They are typically caused by external factors such as frequent blood transfusions, excessive iron supplementation, or certain medical conditions.
• Iron buildup in secondary hemochromatosis is often faster and can impact organ function similarly to the hereditary form.
• Symptoms: Common symptoms include persistent fatigue, unexplained weight loss, weakness, and joint pain.

oUsually emerge between the ages of 30 and 60.

• Treatment: Phlebotomy serves as the standard treatment for primary hemochromatosis.

oThis procedure involves the removal of red blood cells, which are the body's primary source of iron.