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How is haemochromatosis diagnosed?

Haemochromatosis can be diagnosed from a blood test which specifically measures the following: the transferrin saturation (the amount of iron attached to transferrin, a blood protein) and serum ferritin (which indicates overall iron levels in the body). If the levels appear higher than normal, a genetic test can be performed to identify if you are carrying the mutations C282Y and/or H63D in the HFE gene.

FAQ Frequently asked questions

What is haemochromatosis?

Haemochromatosis is a hereditary condition that causes your body to absorb too much iron from your diet.

What are the symptoms of haemochromatosis?

Signs and symptoms of haemochromatosis vary from person to person and can include: fatigue; joint pain (knuckles, knees and ankles); weakness; irritability; stomach pain; low libido, and; discolored skin (bronze or leaden grey).

What causes haemochromatosis?

Haemochromatosis is caused by specific mutations of the HFE gene, known as C282Y and/or H63D. it is a recessive, hereditary condition which means that for you to develop the disorder both your mother and father must carry, and pass on, a mutated form of the …

Who develops haemochromatosis?

Risk factors for haemochromatosis include: Family history (particularly a parent or sibling with haemochromatosis), and; Being of Northern European origin.

How is haemochromatosis treated?

Haemochromatosis is treated by removing the excess iron from your body in a process called venesection, which involves removal of blood from the body, similar to donating blood. Up to 500mL can be taken at regular intervals (up to twice a week) to bring the …

Can haemochromatosis be cured?

No, haemochromatosis is a genetic condition and cannot be cured. It can be successfully managed by venesection (blood removal) to reduce the level of iron in your body or chelation therapies, which allow excess iron to be excreted through the urine.

Will haemochromatosis clear on its own?

Haemochromatosis will actually get worse if left untreated. This is because excess iron accumulates in certain organs including the heart, liver, pancreas and joints, and over time can cause damage.

What can be done at home to treat haemochromatosis?

There are certain lifestyle measures that you can follow to help manage haemochromatosis. These include: Not taking iron supplements; Avoiding excess alcohol intake, which can worsen liver damage; Cautious use of certain medications, …

Is haemochromatosis serious?

Haemochromatosis is a serious condition. If left untreated, serious complications can result from the associated organ damage, including type 2 diabetes, arthritis, congestive heart failure and liver failure.

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About this article

Author: Dr Idan Ben-Barak PhD, MSc, BSc (Med)
First answered: 06 Oct 2014
Last reviewed: 19 May 2018
Rating: 4.4 out of 5
Votes: 1008 (Click smiley face below to rate)
Category: Lupus

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