Hemochromatosis

Is Testing Right for Me? I Have My Test Results

Hemochromatosis

What Is Hemochromatosis?

Hemochromatosis, or iron overload, happens when the body takes in more iron than it needs. Iron builds up in the body and is stored in the skin, joints, liver, heart, and pancreas. Some kinds of iron overload develop when a person gets too much iron from outside causes, such as supplements or as a result of medications or multiple blood transfusions. This is different from hereditary hemochromatosis, or HH for short. HH develops as a result of inherited gene mutations.

Our bodies need a small amount of iron every day, but large amounts can damage our organs. Once the body has absorbed iron, the only way for it to leave the body is through blood loss — like bleeding, menstruation, or pregnancy — and the normal shedding of cells. If iron overload isn't diagnosed and treated early enough, it can lead to:

  • Diabetes
  • Arthritis or joint disease
  • Heart failure
  • Cirrhosis of the liver, liver failure, or (rarely) liver cancer
  • Impotence or decreased libido in men
  • Premature menopause in women
  • Bronzing of the skin

Symptoms of Hemochromatosis


See a Diagram of Symptoms

Early symptoms of HH include joint pain, fatigue and abdominal pain. Over time, if HH isn't treated, iron gets stored in the liver, heart and other important organs. As a result, more serious problems such as liver cirrhosis, liver cancer and diabetes can develop.

One in 200 people have genetic mutations for HH. This puts them at risk for getting iron overload. However, only a small number of these people will go on to develop problems of iron overload. Whether or not someone develops problems depends on which mutations they have, their gender, diet, and alcohol use. Different people in the same family may have mild or severe complications from HH.

The good news is that there is effective treatment for HH. Regular blood donation can prevent serious complications. For people with HH who haven't developed the more serious complications, blood donation can reverse most other symptoms and make life expectancy relatively normal.

Early diagnosis of iron overload leads to early treatment. If you have HH, your doctor can use blood iron tests to figure out if you need blood donation, and how often.

Next: Who Is At Risk For Hemochromatosis?

Why are you considering genetic testing

I think I might have hereditary hemochromatosis, but I haven't seen a doctor yet.

I had blood tests that showed I had extra iron in my blood, but I haven't had genetic testing yet. (This is usually called "iron overload" and is based on a transferrin saturation level of 45% or more.)

I have a close family member with hereditary hemochromatosis (parent, child, brother or sister).

I have a close family member who is a carrier of hereditary hemochromatosis (parent, child, brother or sister).

My partner has hereditary hemochromatosis and we want to know if our children may be affected.

My partner is a carrier of hemochromatosis and we want to know if our children may be affected.

None of these

Genetic testing may be useful for you, but it isn't the first step.

The signs and symptoms of hereditary hemochromatosis (HH) can have many causes. You should review your symptoms with a doctor. If the doctor thinks that HH is a possible cause, blood tests to check the levels of iron in your blood are the first step. These tests are called fasting transferrin saturation (TS) and serum ferritin studies. They check for iron overload, or extra iron in the blood.

Blood tests for iron overload will find most people who should have additional testing for HH. If the test results show high levels of iron, then genetic testing may confirm a diagnosis.

Genetic testing for hereditary hemochromatosis (HH) may be useful for you, because your blood tests showed iron overload.

Current medical guidelines say that genetic testing for HH should be done on people who have iron overload. Iron overload is found by measuring transferrin saturation (TS) and ferritin levels in the blood. If the results of your tests were high, you may have HH. Genetic testing can confirm a diagnosis for most people. Treatment is available that improves many of the symptoms of HH.

Genetic testing for hereditary hemochromatosis (HH) may be useful for you, because you have a parent, brother, sister, or child who has HH and you're an adult.

Current medical guidelines say that HH genetic testing should be offered to people with a family history of HH. They recommend that genetic testing be done with blood tests that check for iron overload.

If you have a brother or sister with HH, you have a 1 in 4, or 25% chance to have it too. This happens when you inherit two mutations (one from each parent) in the gene for HH. Keep in mind that many people with two HH mutations never get any health problems related to iron overload. If you do, treatment is available.

If your parent has HH, you have a 1 in 2, or 50% chance to be a carrier. If your child has HH, you are almost certain (100% chance) to be a carrier. Carriers have only one gene mutation and don't usually have problems with iron overload.

Genetic testing is generally not recommended until you are an adult, since HH-related problems don’t usually appear until adulthood.

Genetic testing for hereditary hemochromatosis (HH) may be useful for you, because you are an adult and you have a parent, brother, sister, or child who is a carrier of HH.

Current medical guidelines say that HH genetic testing should be offered to people with a family history. They recommend that genetic testing be done with blood tests that check for iron overload.

When you have a close relative who is a carrier of HH, your chance to also be a carrier is 50%. Carriers have only one gene mutation and don't usually have problems with iron overload.

However, gene mutations for HH are common in Caucasians. If you are Caucasian, it's possible that both of your parents are carriers, even if only one parent has had testing. In this case, you may find that you have one gene mutation or two. Keep in mind that many people with two HH mutations never get any health problems related to iron overload. If you do, treatment is available.

Genetic testing is generally not recommended until you are an adult, since HH-related problems don’t usually appear until adulthood.

Genetic testing for hereditary hemochromatosis (HH) may be useful for you, because your partner has HH.

Carrier screening in a partner of someone with a genetic condition is a common use of genetic testing. Results of carrier screening can tell you your chance to have a child with HH.

  • If testing shows you are a carrier, the chance for you and your partner to have a child with two gene mutations is 1 in 2, or 50%. However, most people with two gene mutations will never get serious health problems of HH. This is especially true if the risk is known and iron overload can be prevented.
  • If testing shows you are not a carrier, you and your partner are at a low risk to have a child with HH. However, testing can't find all HH mutations, so that risk is not zero. More than likely, each of your children will inherit one gene mutation from your partner and one working copy of the gene from you. This would make all of your children carriers. Carriers usually don't have any problems with iron overload.

Prenatal diagnosis for conditions like HH is generally discouraged because the condition doesn't affect children and is treatable. Insurance carriers are not likely to cover HH prenatal genetic testing for this reason.

Genetic testing for hereditary hemochromatosis (HH) may be useful for you, because your partner is a known carrier of HH.

Carrier screening in a partner of someone with a genetic condition is a common use of genetic testing. Test results can tell you your chance to have a child with HH.

  • If testing shows you are a carrier, the chance for you and your partner to have a child with two gene mutations is 1 in 4, or 25%. However, most people with two gene mutations will never get serious health problems of HH. This is especially true if the risk is known and iron overload can be prevented.
  • If testing shows you are not a carrier, you and your partner are at a low risk to have a child with HH. However, testing can't find all HH mutations, so that risk is not zero. In most cases, there will be a 1 in 2, or 50% chance for each of your children to be a carrier, like your partner. Carriers have just one gene mutation and usually don't have any problems with iron overload. There is also a 50% chance for your children to have two normal, working genes.

Prenatal diagnosis for conditions like HH is generally discouraged because it doesn't affect children and is treatable. Insurance carriers are not likely to cover HH prenatal genetic testing for this reason.

Genetic testing for hereditary hemochromatosis isn't likely to be useful for you.

You did not choose any of the common reasons to have testing for hereditary hemochromatosis (HH). The main reasons for testing are listed in Who Should Consider Testing.

If you have another reason for testing that isn't covered here, talk to your doctor or a genetic counselor about whether testing might be useful for you.