What is Hemochromatosis, the rare genetic disorder that causes organ dysfunction?

Source: The post is based on the article “What is Hemochromatosis, the rare genetic disorder that causes organ dysfunction?” published in “Hindustan Times” on 11th October 2023

What is the News?

Health experts have revealed all about Hemochromatosis or ‘bronze diabetes’.

What is Hemochromatosis?

Hemochromatosis is a disorder associated with deposits of excess iron that causes multiple organ dysfunction.

The organs affected by hemochromatosis include the liver, pancreas, heart, thyroid, joints, skin, gonads and pituitary. 

Hemochromatosis has been dubbed “bronze diabetes” because of the skin darkening and concomitant pancreatic illness. 

Types: It is primarily classified into two types: 

Hereditary hemochromatosis: It is a genetic disorder driven by a mutation in the HFE gene, resulting in individuals being homozygous for the C282Y variant. 

– This genetic anomaly sets the stage for a lifelong struggle with excessive iron absorption within the intestines.

Secondary hemochromatosis: It differs from the hereditary form as it is typically caused by external factors like frequent blood transfusions, excessive iron supplementation, or certain medical conditions. 

– The iron accumulation in secondary hemochromatosis is often more rapid and can have a similar impact on organ function.

Symptoms: With the buildup of harmful levels of iron, hemochromatosis can cause symptoms including feeling tired or weak, pain in the joints, pain in the abdomen over the liver and darkening of skin color.

Treatment: Treatment options include therapeutic phlebotomy, which involves regular blood removal to reduce iron levels and iron-chelating medications to help manage iron overload. Phlebotomy is usually performed once or twice a week.