What condition is diagnosed for Homozygous C282Y individuals?

Homozygous C282Y individuals are diagnosed with Hemochromatosis because this genetic mutation is associated with excessive iron absorption in the body. The C282Y mutation occurs in the HFE gene, which is crucial for regulating iron metabolism. When an individual inherits two copies of the C282Y mutation (one from each parent), it leads to a disruption in iron homeostasis, resulting in increased iron deposition in various organs such as the liver, pancreas, and heart. Over time, the accumulation of iron can cause serious health issues, including liver cirrhosis, diabetes, and heart disease, all consequences of hemochromatosis.

In contrast, the other conditions listed do not have a direct link to the C282Y mutation. Atherosclerosis is primarily related to the buildup of plaques in the arteries and is influenced by multiple factors such as diet and lifestyle. Cardiomyopathy pertains to diseases of the heart muscle, which can arise from various causes, including genetic factors, but not specifically from the C282Y mutation. Cystic Fibrosis, on the other hand, is caused by mutations in the CFTR gene, which is unrelated to iron metabolism. Thus, the accurate diagnosis for individuals with the homozygous