Hemochromatosis

Table of Contents☰

About Hemochromatosis:

It is an inherited condition where iron levels in the body slowly build up over many years.
This health condition is primarily classified into two types:
Hereditary hemochromatosis: It is 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 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 of haemochromatosis usually start between the ages of 30 and 60.
Common symptoms include: Feeling very tired all the time (fatigue),weight loss,weakness and joint pain etc
Treatment:
Phlebotomy is the standard treatment for primary hemochromatosis.
Iron toxicity can be reduced by removing red blood cells, the body’s main mobilizer of iron.
Phlebotomy is usually performed once or twice a week.

Q1:What is Blood transfusion?

It is a medical procedure in which blood or blood components are transferred from one person (the donor) into the bloodstream of another person (the recipient). This procedure is often performed to replace lost blood due to surgery, injury, illness, or other medical conditions.

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