Diagnosis of Hemochromatosis

Diagnostic Test list for Hemochromatosis:

The list of medical tests mentioned in various sources as used in the diagnosis of Hemochromatosis includes:

Iron level blood test
Transferrin saturation test
Blood ferritin levels
Total iron bind capacity (TIBC)
Serum ferritin
Transferrin saturation test
Liver function tests
Liver biopsy
HFE gene test - to test for hereditary hemochromatosis
Diabetes tests
Heart tests
Pituitary tests
Screening of relatives for hemochromatosis

Tests and diagnosis discussion for Hemochromatosis:

A thorough medical history, physical examination, and routine blood tests help rule out other conditions that could be causing the symptoms. This information often provides helpful clues, such as a family history of arthritis or unexplained liver disease.

Blood tests can determine whether the amount of iron stored in the body is too high. The transferrin saturation test determines how much iron is bound to the protein that carries iron in the blood. The serum ferritin test shows the level of iron in the liver. If either of these tests shows higher than normal levels of iron in the body, doctors can order a special blood test to detect the HFE mutation, which will help confirm the diagnosis. (If the mutation is not present, hemochromatosis is not the reason for the iron buildup, and the doctor will look for other causes.) A liver biopsy, in which a tiny piece of liver tissue is removed and examined under a microscope, will disclose how much iron has accumulated in the liver and whether it is damaged. (Source: excerpt from Hemochromatosis: NIDDK)