Hemochromatosis (Hereditary Hemochromatosis) | Iron Overload

Diagnosis of hemochromatosis

Hereditary hemochromatosis is hard to diagnose because its symptoms -in any organ- can be due to many other conditions. Also, this hemochromatosis may be secondary to causes, which your doctor should exclude. Most people with this disease are asymptomatic; thus, they may discover this high iron while investigating another problem.

The diagnosis should involve detailed history taking and careful physical examination to order the appropriate investigations.

At first, your doctor will hear your complaint, then he will ask you about its onset, progression over time, and severity. Then, he will ask you if you have other symptoms (present history). Also, he should ask you about your sexual life and ask about menstruation in females.

Then, he will ask you if you experienced any diseases in your life, took any supplements (iron or vitamin C), or received repeated blood transfusions (past history). Your doctor will also ask you about your family. He will ask if you have a 1st-degree relative who had hemochromatosis or disease related to it (family history).

The 2nd step is the physical examination. Your doctor should examine all of your body. Abdominal examination is to assess the liver affection. Also, he should listen to your heart to find any disturbances. He should also check for arthritis, abnormal skin colors, and testicular size.

History and examination make an initial suspicion towards hemochromatosis. Thus, your doctor will choose investigations to confirm or exclude this suspicion and assess the complications.

These investigations include:

Iron profile

We have two blood tests to measure the iron in your body:

  • Transferrin saturation test: Transferrin is a protein that carries iron in your blood. This test measures how much iron the transferrin transports. Transferrin saturation of more than 45% is high.
  • Serum ferritin: Ferritin is the storage form of iron in your liver. This test measures the stored iron in your body. Your doctor would order it if the transferrin saturation test gave abnormal high results.

Your doctor may need to repeat these tests for more reliable and accurate results.

Genetic testing

Your doctor may need genetic testing to confirm that you have hereditary hemochromatosis. Also, if you have this disease or a family history of it, and you want to start a family, consider genetic testing.

MRI (Magnetic Resonance Imaging)

This imaging technique measures the iron overload in your liver and checks the signs of liver damage.

After your doctor confirms his diagnosis, he will do investigations to look for the suspected complications, such as:

liver function tests, liver biopsy, and heart investigations (like ECG and echocardiography).

For healthy people,

If you had hemochromatosis, your 1st-degree relatives should do genetic screening. If one parent only has the mutation, the children don’t need genetic testing.

Written by Martin Davis