What is hereditary haemochromatosis?

Q: What is hereditary haemochromatosis?


A: Hereditary haemochromatosis is a genetic disorder in which a person accumulates a dangerous level of iron in their body.

Q: Why do humans accumulate extra iron in their bodies with this disorder?


A: Humans cannot quickly expel extra iron, which causes it to accumulate in tissues and organs, and harm the body's normal function.

Q: Who is most likely to suffer from the hereditary form of haemochromatosis?


A: The hereditary form of the disease is most common among those of Northern European ancestry, especially those of Celtic descent.

Q: How is the disease inherited?


A: The disease is inherited in an autosomal recessive pattern, meaning that both copies of the gene have mutations in each cell.

Q: Can parents pass on the mutated gene to their children?


A: Yes, most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the mutated gene, but do not show signs or symptoms of the condition.

Q: What are some of the symptoms of hereditary haemochromatosis?


A: Some symptoms of hereditary haemochromatosis include joint pain, fatigue, abdominal pain, and organ damage.

Q: Is hereditary haemochromatosis a curable disease?


A: Although hereditary haemochromatosis is treated by reducing iron levels in the blood through phlebotomy or iron chelation therapy, it is not curable.

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