How is hemochromatosis inherited?

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Hemochromatosis, particularly hereditary hemochromatosis, is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of a mutated gene (one from each parent) to be at risk of developing the condition. Hemochromatosis is primarily caused by mutations in the HFE gene, which regulates how the body absorbs iron. Here’s a detailed explanation of how hemochromatosis is inherited:

1. HFE Gene Mutations

HFE Gene: The HFE gene helps regulate iron absorption. Mutations in this gene cause the body to absorb too much iron from food.
Common Mutations:
- C282Y Mutation: The most common mutation associated with hereditary hemochromatosis. People who inherit two copies of this mutation (one from each parent) are at high risk of developing iron overload.
- H63D Mutation: Another mutation of the HFE gene, which can lead to a milder form of the disease when paired with another mutation (C282Y/H63D).
- Other Mutations: Though rarer, mutations in other genes like TFR2, HJV, and HAMP can also cause hereditary hemochromatosis.

2. Autosomal Recessive Inheritance Pattern

Two Mutated Copies Required: For a person to develop hereditary hemochromatosis, they must inherit two mutated copies of the HFE gene—one from each parent. This is known as being homozygous for the mutation.
Carriers (Heterozygous): If a person inherits one mutated gene and one normal gene, they are a carrier. Carriers usually do not develop symptoms because one normal gene is sufficient to regulate iron absorption, but they can pass the mutated gene to their children.

3. Inheritance Scenarios

The likelihood of inheriting hemochromatosis or becoming a carrier depends on the genetic makeup of the parents:

Both Parents Are Carriers (Heterozygous):
- Each child has a:
  - 25% chance of inheriting two mutated genes (one from each parent) and developing the condition.
  - 50% chance of inheriting one mutated gene and becoming a carrier.
  - 25% chance of inheriting two normal genes and being unaffected.
One Parent Is Affected and One Parent Is a Carrier:
- Each child has a:
  - 50% chance of inheriting two mutated genes and developing the condition.
  - 50% chance of inheriting one mutated gene and becoming a carrier.
One Parent Is Affected and One Parent Has No Mutation:
- Each child has a:
  - 100% chance of inheriting one mutated gene and becoming a carrier, but they will not develop the condition.
Both Parents Are Affected (Homozygous):
- Each child will:
  - 100% inherit the condition, as both parents will pass on a mutated gene.

4. Compound Heterozygotes

C282Y/H63D Compound Heterozygotes: A person who inherits one C282Y mutation and one H63D mutation is called a compound heterozygote. These individuals have a moderate risk of developing iron overload, but their condition is typically less severe than those with two C282Y mutations.

5. Variable Expression and Penetrance

Penetrance: Even if a person inherits two copies of the mutated gene (C282Y/C282Y), not everyone will develop symptoms of hemochromatosis. The likelihood of developing the condition (known as penetrance) varies among individuals, with some accumulating excess iron without experiencing symptoms.
Environmental Factors: Certain factors, such as diet, alcohol consumption, and gender, can influence whether a person with the genetic mutation will develop symptoms. Men tend to develop symptoms earlier than women because women naturally lose iron through menstruation and pregnancy.

6. Genetic Testing

HFE Genetic Testing: Genetic testing can confirm the presence of the C282Y or H63D mutations in individuals suspected of having hereditary hemochromatosis. It is commonly performed when someone has high iron levels, a family history of the disease, or symptoms of iron overload.
Family Screening: If one person in a family is diagnosed with hemochromatosis, it’s often recommended that family members undergo genetic testing to determine if they are carriers or at risk for developing the condition.

Conclusion:

Hereditary hemochromatosis is inherited in an autosomal recessive manner, meaning a person must inherit two copies of a mutated gene (one from each parent) to develop the condition. Carriers of the mutation (who have only one mutated gene) usually do not show symptoms but can pass the gene on to their children. The most common genetic mutation associated with hereditary hemochromatosis is the C282Y mutation in the HFE gene, though other gene mutations can also cause the condition. Genetic testing can confirm the presence of these mutations and help guide diagnosis and family screening.

Ironbound™ A Strategy For The Management Of Hemochromatosis