DNA Direct: Your Genes in Context

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Testing for Genetic Disorders

Related Genetic Tests

Hemochromatosis

Includes a personalized report, a letter for your doctor, and toll-free support

Price: $199.00

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HEMOCHROMATOSIS

Who Is At Risk for Hemochromatosis?

Hereditary hemochromatosis is caused by inheriting a change, or mutation, in a gene that causes the body to store too much iron. When someone has been diagnosed with hereditary hemochromatosis, their family members are also at increased risk for the disorder. People whose ancestors come from certain areas of the world are also more likely to have hereditary hemochromatosis.

Your Family History
Your Ancestry
Looking for Clues of Hemochromatosis

Your Family History

Your risk of developing hemochromatosis increases with the number of diagnoses in a family and how closely related you are to affected family members.

Keep in mind, however, that you can have two mutated copies of the most common gene known to cause hemochromatosis (the HFE gene) without ever developing any symptoms of or complications from the disorder — especially if you and your doctor take steps to regulate your iron levels.

Family Member With Hereditary Hemochromatosis	Your Chance of Having Two Copies of a Mutation
None (general population)	1 in 200 (0.5 percent)
Aunt, uncle, or cousin	Less than 1 in 60 (less than 2 percent)
One parent but no sibling	1 in 20 (5 percent)
Sibling but no parent	1 in 4 (25 percent)
Sibling and parent	1 in 2 (50 percent)
Two parents	1 in 1 (100 percent)

Your Ancestry

People of European descent are much more likely to be carriers of what was, until recently, the only gene known to cause hereditary hemochromatosis than are people of other ethnic ancestries. This gene is called HFE.

However, iron overload is just as common in African Americans and Mexican Americans as it is among Caucasian Americans. Hemochromatosis in these groups may be caused by mutations in a number of other genes, such as the transferrin receptor-2 (TFR2), which may be involved in regulating the uptake of iron by cells.

The chance that someone who has European ancestry carries a hereditary risk for hemochromatosis depends on what part of Europe their ancestors originated. For example, about 1 in 10 (10 percent) people of Northern European ancestry carry a genetic risk while 1 in 33 (3 percent) people of Southern European ancestry carry the same risk.

For people of Celtic ancestry (Ireland, Scotland, Wales, Cornwall, French Brittany), 1 in 4 carry a genetic change in the HFE gene.

Genetic testing is not yet commercially available for the genes other than HFE, so if you are not of European descent and suspect that you might have hemochromatosis, your doctor will most likely make a diagnosis based on the nongenetic screening tests.

Looking for Clues of Hemochromatosis

Many of the early symptoms of hemochromatosis are not specific, for example, weakness and fatigue, muscle and joint aches, loss of sex drive. The more advanced symptoms often mimic other adult-onset disorders, such as diabetes and heart disease. Thus, hereditary hemochromatosis often goes undiagnosed in families.

Some clues that members of your family may have had undiagnosed hemochromatosis — and that you are at risk for it — include the following, all of which are complications that can arise from untreated hemochromatosis:

Unexplained diabetes
Unexplained heart disease
Unexplained liver disease
Unexplained thyroid dysfunction
Arthritis
Impotence

Be aware that people can also be carriers of the disorder — that is, they have a mutation in one of their two copies of the HFE gene — without exhibiting any effects or symptoms of the disorder themselves. So even if you do not have a family history of hemochromatosis, you should consider a screening test for the disorder if you experience any of the following symptoms:

Weakness or fatigue
Decreased sex drive or impotence
Abdominal pain
Heart problems (including abnormal heart rhythms or congestive heart failure)
Pain in the joints
Increased skin pigmentation, especially bronze or gray

The bottom line is that if anyone in your family has been diagnosed with hemochromatosis or shows signs of being a carrier, or if you have any unexplained symptoms yourself, you should be tested for the disorder. Testing can be done via laboratory studies of iron storage levels and genetic testing, if necessary, to confirm those findings.