主页 What are blood disorders? Haemochromatosis

Haemochromatosis

OverviewOverview

Hereditary haemochromatosis occurs when your body absorbs and improperly stores too much iron from the food you eat. Over time this leads to iron overload.

Extra iron is stored in areas of the body where it can cause problems, such as the liver, heart, pancreas, pituitary gland and other organs. Without treatment hereditary haemochromatosis can lead to more serious conditions, such as cancer, diabetes and liver poisoning, and cause significant and life-threatening organ damage.

Hereditary haemochromatosis is also known as familial haemochromatosis or inherited iron overload disorder.

DiagnosisDiagnosis

To diagnose hereditary haemochromatosis you doctor will order a series of blood tests. These tests include:

Transferrin is a protein that carries iron in the blood. A transferrin saturation (TS) test shows how much iron the transferrin is carrying
A serum iron test measures how much iron is present in the blood
A serum ferritin test measures the amount of iron the body has stored

If blood tests show you have an iron overload and/or you have a family history of haemochromatosis, then genetic testing (HFE studies) may be required to confirm your diagnosis.

Other tests, such as a liver function test, may also be conducted to understand the full picture of your current health. MRI scan can be done to determine the level of iron in the liver.

TreatmentTreatment

If you have been diagnosed with haemochromatosis, regular blood removal (or venesection) is used to lower your iron to a normal level. The procedure for blood removal is similar to blood donation, where 450-500mls of blood is removed until the iron in the blood is reduced to normal.

The amount of blood removed and how often it is removed depends on your age, overall health and how severe your iron overload condition is. It may take a year or longer to reduce the iron in your body to normal levels.

People with haemochromatosis need to have their iron levels monitored regularly by their doctor.

Frequently asked questionsFrequently asked questions

What are the symptoms of haemochromatosis?

Haemochromatosis usually have no symptoms in the early stage. Symptoms such as excessive fatigue, joint pain and darkening of the skin may develop subsequently.

Should my family get gene testing for haemochromatosis?

Haemochromatosis is an autosomal recessive gene disorder. This means that to develop haemochromatosis, a person needs to inherit the haemochromatosis (HFE) gene mutation from both of their parents. If a person inherits only one mutated HFE gene they are known as a carrier, and although they generally won’t develop haemochromatosis themselves, they may pass the mutation on to their children.

A simple blood test can identify whether a person is carrying the mutated HFE gene.

Can haemochromatosis be treated by diet?

Haemochromatosis cannot be treated by diet. However, it’s recommended that you eat a healthy nutritious diet and keep a few considerations in mind. These include:

Avoiding iron supplements or vitamin and mineral supplements that contain iron
Checking with your doctor about vitamin C supplements, as this increases iron absorption, and alcohol intake (to reduce strain on your liver)
Reading food labels and avoiding foods that are fortified with iron
Understanding which foods naturally contain iron

Can I still eat red meat if I have haemochromatosis?

There is no need to cut red meat out of your diet or follow a low iron diet. Blood removal (or venesection) is the best way to remove extra iron from your blood.