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Medical Author:

Siamak T. Nabili, MD, MPH

Siamak T. Nabili, MD, MPH

Dr. Nabili received his undergraduate degree from the University of California, San Diego (UCSD), majoring in chemistry and biochemistry. He then completed his graduate degree at the University of California, Los Angeles (UCLA). His graduate training included a specialized fellowship in public health where his research focused on environmental health and health-care delivery and management.

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Medical Editor:

Melissa Conrad Stöppler, MD, Chief Medical Editor

Melissa Conrad Stöppler, MD, Chief Medical Editor

Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

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Once the diagnosis of hemochromatosis is made in an individual, screening of the first-degree relatives is of utmost importance. This is the most significant step in preventing the disease manifestations in family members of the affected person, and it is considered the standard of care.

Screening of the first-degree relatives of the patient with hemochromatosis may be done by measuring serum ferritin and transferrin saturation. Genetic testing for the HFE gene mutation has also been recommended in this population for both screening and confirmation of the diagnosis. The ages between 20-30 are generally recommended for screening of the first degree relatives.

Routine screening for hemochromatosis in the general population has undergone considerable debate. Despite its relatively significant prevalence, a population-based genetic screening (testing the entire population) for hereditary hemochromatosis is not advocated based on recent studies.

Recent studies promote screening tests for at-risk individuals who may have clinical suggestion of iron overload, such as elevated liver enzymes or early arthritis, in people of Northern European ancestry. This approach is not an established recommendation as of yet.

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