5 doctors weighed in:

How exactly do you test for hemochromatosis?

5 doctors weighed in
Dr. Michael Borookhim
Internal Medicine
3 doctors agree

In brief: Varous blood work

Helpful.
, such as serum transferrin, transferin saturation, liver enzyme testing, ferritin level. Other options include, liver biopsy and imaging.

In brief: Varous blood work

Helpful.
, such as serum transferrin, transferin saturation, liver enzyme testing, ferritin level. Other options include, liver biopsy and imaging.
Dr. Michael Borookhim
Dr. Michael Borookhim
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Dr. Richard Roberts
Clinical Genetics

In brief: Best screen

The best screening tests are those which detect iron overload, which include serum ferritin (where most of the iron in the body is stored), serum iron, and the TIBC – an indirect measurement of transferrin, which transports iron.
Iron overload is diagnosed If the saturation of transferrin is too high.The disease is prevented simply by blood donation prior to the development of toxic effects.

In brief: Best screen

The best screening tests are those which detect iron overload, which include serum ferritin (where most of the iron in the body is stored), serum iron, and the TIBC – an indirect measurement of transferrin, which transports iron.
Iron overload is diagnosed If the saturation of transferrin is too high.The disease is prevented simply by blood donation prior to the development of toxic effects.
Dr. Richard Roberts
Dr. Richard Roberts
Thank
1 comment
Dr. Richard Roberts
You want to diagnose iron overload before there are any symptoms. The first symptoms maybe Diabetes or premature ovarian or testicular failure. Once serious Dems occur in the liver or other organs the five-year survival is 5%.
Dr. Ed Friedlander
Pathology

In brief: Depends

If the symptoms are suggestive or transaminases are high, it may be worth bypassing the transferrin saturation and going right to the serum ferritin.
Imaging the liver may be sufficient to suggest iron overload, and the study for the appropriate gene (usually HFE) identifies those able to get the common form. The real decision is, "Do we want to treat?" Best wishes.

In brief: Depends

If the symptoms are suggestive or transaminases are high, it may be worth bypassing the transferrin saturation and going right to the serum ferritin.
Imaging the liver may be sufficient to suggest iron overload, and the study for the appropriate gene (usually HFE) identifies those able to get the common form. The real decision is, "Do we want to treat?" Best wishes.
Dr. Ed Friedlander
Dr. Ed Friedlander
Thank
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