What is the inheritance pattern of hemochromatosis?

Hemochromatosis primarily follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the disease. The gene most commonly associated with hereditary hemochromatosis is the HFE gene, located on chromosome 6. In this genetic condition, there is an abnormal absorption of iron leading to excessive accumulation in various organs, which can cause damage over time.

Because it is autosomal recessive, individuals who inherit only one copy of the mutated gene (carriers) typically do not show symptoms or have adverse health effects resulting from iron overload. Both parents must be carriers for there to be a risk of having an affected child. This pattern helps explain why hemochromatosis can often be underdiagnosed initially, especially in families where the disease is not well recognized.

In contrast to autosomal recessive conditions, other inheritance patterns such as autosomal dominant or X-linked recessive would present differently in terms of symptom expression and carrier status among generations. Mitochondrial inheritance refers to genes located in the mitochondria and is not applicable to hemochromatosis. Recognizing the specific inheritance pattern is crucial for genetic counseling and identifying at