How is a diagnosis for iron overload/hemochromatosis confirmed?

Labs and Bx. Labs that include ferritin and transferrin saturation. All patients being evaluated for hhc should have c282y and h63d mutation analysis. This may help in determine risk for hhc but is not always diagnostic by itself. Lastly a liver biopsy with a iron index or MRI may help to confirm suspected cases.
Liver biopsy. Although blood testing (measurement of iron studies and hfe assay) combined with family history can be very suggestive, a liver biopsy with iron staining clinches a diagnosis of hemochromatosis and distinguishes it from other iron overload diseases.

Related Questions

Isn't the diagnosis for hemochromatosis based on irish hemochromatosis? Other races like far east have different gene for iron overload

Let me help. Most hemochromatosis worldwide is caused by mutations at the hfe gene locus; most europeans with a worrisome mutation here have c282y, but there are other alleles at this locus, and several other less common loci. Further, having the gene won't give you the disease unless you actually get iron-overloaded, which is how we pick it up. Any primary care doc can diagnose & rx is easy. Stay proactive. Read more...

What is iron overload, hemochromatosis?

Too much bodily iron. As a result of the inability to increase iron loss, iron overload is an inevitable response to increased iron entry into the body. This can occur by one of three mechanisms - nutritional intake, increased absorption, parenteral sources (i.e. Transfusions). Hemochromatosis is abnormally high absorption of iron as result of a genetic defect. Extra iron can be toxic. Read more...
Iron overload. Iron overload are the diseases that cause excess accumulation of iron on various organs and in the long run cause serious damage to those organs. The most common organ involved is the liver. There are inherited diseases, which cause excess iron in the liver mostly, and less commonly in other organs, such as heart, pancreas, skin etc. There are diseases, which called secondary hemochromatosis. Read more...

How common is iron overload/hemochromatosis?

Hard to say. It is impossible to say as there are many causes for iron overlaid and even hhc. For the common c282y homozygotes it has been approximated to be 0.44% in caucasian populations. Read more...
1 in 200. It's extremely common, and of all the common, serious diseases, it is the easiest to manage. If it's discovered relatively late, the person realizes they've had "the blahs" for years once phlebotomy removes the excess iron. Read more...

How serious is iron overload, hemochromatosis?

Can be deadly. Over time, excesses of iron build up in major organs such as the heart, liver, pancreas, joints and pituitary. If the extra iron is not removed, these organs can become diseased, causing conditions like diabetes mellitus, irregular heart beat or heart attack, arthritis, cirrhosis of the liver or liver cancer, gall bladder disease, depression, impotence, infertility, hypothyroidism, hypogonadism. Read more...
It can be serious. Iron overload in hemochromatosis can be quite serious and result in damage to a number of organs. Liver damage is the most serious and may result in cirrhosis of the liver. Other problems may include damage to the heart with arrythmia and congestive heart failure. Read more...
Extremely. Untreated, it will kill you slowly and miserably. It is extremely easy to manage with phlebotomy. Read more...

Who is affected by iron overload/hemochromatosis?

C282Y Homozygous. Most commonly seen in those with 2 copies of the c282y genetic mutation of the hfe gene. However there are other defects that may result in hhc. Hemochromatosis may result in iron overload, however not all iron overload is from hemochromatosis. Read more...
Mostly men. Women usually because of their menstrual cycle , they can. Loose excessive iron. Read more...

What are the symptoms of iron overload, hemochromatosis?

Fatigue, aches. A person absorbs iron from foods and oral iron supplements because human bodies require iron. If he has plenty of iron, his body won't absorb as much iron, but he will not stop absorbing iron. That means he can get iron overload by taking too high a dose of iron supplements. Iron overload damages the liver, and causes symptoms of fatigue, weakness, joint pains, abdominal pains, etc... Read more...
A few. Lack of energy, abdominal pain, memory fog, loss of sex drive, heart flutters, irregular heart beat. When symptoms are associated with hemochromatosis, these usually begin in men in their late 20’s to early 30’s. In women, symptoms usually start about 10-15 years after they stop having a period due to menopause, birth control pills or hysterectomy. Read more...

What iron levels are considered "suspicious" for iron overload/hemochromatosis?

Hemachromatosis. A number of tests are available to check iron levels, and a hematologist or blood disease specialist, will check multiple tests for iron overload. The specialist may also suggest a liver biopsy to check for iron overload. Read more...
See below. A non-fasting serum iron- transferrin (iron protein) percentage of more than 60% is considered suspicious and should be followed by further work-up. Read more...
Transferrin sat. Your best screen is transferrin saturation. Many of us think that the current recommendation of 45% or more for women, 50% of more for men miss too many people. If you actually have evidence of liver troubles (elevated SGOT / SGPT, for example), think about getting a serum ferritin. With a family history, get the gene testing to know early. Read more...

Is iron overload/hereditary hemochromatosis "curable"?

No. Hereditary hemochromatosis related to the hfe gene: treatable, yes. Curable, no. Not to be confused with other causes of iron overload. Read more...
No. This disease is not curable.However treatment is usually nonpharmacology therapy with phlebotomy on a prn basis depend on hematocrit level.Prognosis is good it start early. Read more...
Yes. Yes as long as the iron is removed before irreversible damage like cirrhosis or diabetes has occurred. Phlebotomy is the best way to remove the iron. Read more...
No. Hemochromatosis is a genetically predetermined condition and, as such, is not curable. It is treatable via transfusions and iron chelators, but you can't change your genetics. Read more...
Yes, in women becaus. Their menstrual cycle usually don't get the disease and if excessive iron is removed before damage is done. Read more...
Manage it. Hereditary hemochromatosis is lethal if missed but very easy to manage with regular phlebotomy as required. Because it is a genetic disease for which gene therapy is not an option, it is not curable. However, these people lead normal lives once the diagnosis is made and phlebotomy instituted. Read more...

Is it possible for a person to get iron overload from eating a lot of meat but doesn't have gene for hemochromatosis?

You're fine. Argentinas gauchos live in a 100% meat diet without apparent ill effects. In the absence of the gene for hemochromatosis, your gut simply doesn't absorb the extra iron. Don't worry about nonexistent / negligible risks -- life's difficult enough. Read more...