An iron profile workup and dermatological findings, such as hyperpigmentation, resistant pruritus, alopecia, and vitiligo, ...
Gaucher disease is a rare genetic disorder that causes the buildup of fatty substances in certain organs. Type 1 is the most common type of Gaucher disease, but it’s the least severe and has the ...
Hypertrophic cardiomyopathy (HCM) is a genetic condition that can affect the structure and function of the heart. However, people with HCM can typically expect to live a relatively typical life ...
Liver disease, hereditary, passed through families. Factors like viral infections, alcohol, obesity lead to liver damage, cirrhosis. Genetic liver diseases: Hemochromatosis, Wilson's disease ...
About one quarter of older men who were homozygous for the HFE C282Y mutation had clinically evident disease. Most clinical cases of hereditary hemochromatosis occur in people who are homozygous ...