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Hereditary hemochromatosis type 2

Hereditary hemochromatosis (HH) is a common and highly variable genetic condition that causes the body to store too much iron from the diet, which can damage organs and tissue. Changes in several genes can cause hereditary hemochromatosis; one of those genes is HJV. Changes in the HJV gene cause juvenile HH, which means symptoms typically begin in childhood. Symptoms include joint and abdominal pain, fatigue, changes to skin colour and liver disease.

If left untreated, HH can lead to early death; but if diagnosed early, HH can be treated and managed effectively with no impact on life quality or expectancy. Treatment can include having blood drawn on a regular basis to remove excess iron.

Quick facts about hereditary hemochromatosis type 2
Genes: HJV
Inheritance: Autosomal Recessive
Alternative Names: juvenile hemochromatosis, HJV-related hereditary hemochromatosis
Relevant resources for hereditary hemochromatosis type 2

A quick genetics rundown

As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.

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How is hereditary hemochromatosis type 2 inherited?

hereditary hemochromatosis type 2 is known as an autosomal recessive condition. For autosomal recessive conditions, if a person has a variation in one copy of their gene, they are a carrier. This means that they are healthy because they also have a working copy of the gene. But, they can still pass their non-working copy to their child.

If the other parent also happens to be a carrier of the same gene, there is a 25% (1 in 4) chance that they both pass this gene variation on to their child — and as such, have a child affected by the condition.

If both parents are carriers of hereditary hemochromatosis type 2, there's a one in four chance that their children could develop symptoms.

What is carrier screening?

Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic condition in your child. Eugene offers an inclusive genetic carrier screening panel that includes hereditary hemochromatosis type 2, but there's a total 301 conditions that can be tested.

Eugene's carrier test is a clinical grade test that can be done from the comfort of your own home — it's just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.

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Should parents screen for hereditary hemochromatosis type 2 before or early in pregnancy?

The biggest benefit of screening for hereditary hemochromatosis type 2 is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic condition is low.

Since 90% of children that have a recessive genetic condition like hereditary hemochromatosis type 2 had no previous family history of it, it often feels completely out of the blue for the parents. Getting screened is a way to know this risk in advance, which can help familes manage or even prevent the condition in the first place.