What is the most appropriate initial screening for a patient with a family history of hereditary hemochromatosis?

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The most appropriate initial screening for a patient with a family history of hereditary hemochromatosis is ferritin and transferrin saturation. This is because hereditary hemochromatosis is characterized by excessive iron accumulation in the body, and the two most informative tests to identify this condition early are serum ferritin levels and transferrin saturation percentages.

Ferritin indicates the amount of stored iron in the body, while transferrin saturation assesses how much of the iron transport protein is saturated with iron. Elevated levels of ferritin and high transferrin saturation are indicative of iron overload, which is a hallmark of hereditary hemochromatosis. These tests help in determining whether further diagnostic steps, such as genetic testing or liver function tests, are necessary.

In cases where there is a family history, screening for iron overload is particularly vital because early detection and management can prevent complications from iron overload, such as liver disease and diabetes.

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