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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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As mentioned earlier, hemochromatosis is a genetic hereditary disorder. In each individual, there are 23 pairs of chromosomes (carrying genetic information) in every cell in their body. Each of these pairs contains one chromosome from each parent. Chromosomes contain DNA which carries the genetic blueprint of all the activities and functions in the human body. Small disturbances in the DNA structure (mutations) can potentially result in genetic conditions which can be passed on to offspring.

Hereditary hemochromatosis is thought be the result of a genetic mutation. This condition is inherited in an autosomal recessive fashion, meaning both genes (one from each parent) have a specific mutation. This is in contrast to conditions termed autosomal dominant, in which only one defective gene from a single parent needs to be inherited in order to manifest the condition.

The HFE gene responsible for hereditary hemochromatosis is located on chromosome number 6. The primary mutations for hereditary hemochromatosis are the C282Y, H63D, or S65C. These numbers specify the location of the mutation on the HFE gene. Based on genetic testing, a majority (up to 95%) of cases of hereditary hemochromatosis are caused by homozygote C282Y mutations, that is to say both genes (one from each parent) have inherited this specific mutation. Some cases may be inherited in a heterozygous pattern, meaning the C282Y abnormality comes from one parent and either the H63D or S65C mutation comes from the other parent.

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