Haemochromatosis Test: Why Is It Necessary?

Hereditary hemochromatosis is when the body absorbs an excessive amount of iron from the food an individual consumes. Excess iron is accumulated in their organs, particularly the pancreas, heart, and liver. Excessive iron may cause life-threatening illnesses, including diabetes, heart and liver disease. A haemochromatosis test is a blood test used to diagnose inherited haemochromatosis.

Moreover, the hemochromatosis gene’s cause is passed, although only a small percentage of persons who carry the genes have significant complications. Hereditary hemochromatosis symptoms commonly occur in middle age.


Why Is A Haemochromatosis Test Necessary?

A haemochromatosis test determines whether an individual is exposed to the condition. It should often be suggested for people with a close relative with this illness, such as a sister, brother, parent, or child.

If individuals have an unusually high iron level in their blood, they may be examined for this haemochromatosis test. 

In addition, haemochromatosis symptoms often appear between 30 and 60. If you have any of the following symptoms, you should acquire a test:

  • Joint pain
  • Absent or irregular periods
  • Fatigue
  • Weakness
  • Erectile dysfunction
  • Weight loss

How Is Haemochromatosis Diagnosed?

The haemochromatosis test is used to diagnose the illness. Moreover, many persons with the condition have no symptoms other than increased iron levels in their blood. Hemochromatosis can be detected by abnormal blood tests, including serum ferritin and serum transferrin saturation

Because various diseases may cause increased ferritin, blood tests are frequently abnormal in patients with this problem. They are best administered after you have fasted. Elevations in one or more of these iron blood tests may be detected in various illnesses. For the most accurate results, the tests might have to be redone.

Furthermore, your doctor may recommend more testing to confirm the diagnosis and rule out any other problems:

  • Gene mutation testing
  • MRI
  • Liver function tests
  • Liver biopsy

How Is Haemochromatosis Treated?

Haemochromatosis has no known cure. However, treatments are available that may help individuals lower the iron levels in their bodies such as:

Blood Removal

Physicians may efficiently and safely treat hereditary hemochromatosis by withdrawing blood from an individuals’ body regularly (phlebotomy), exactly as if they were giving blood.

The purpose of phlebotomy is to regulate your iron levels. The volume of blood extracted and the frequency with which it is withdrawn is determined by your age, general health, and the level of iron in your body.

  • Initial treatment schedule
  • Maintenance treatment schedule

Treatment for inherited hemochromatosis may help relieve symptoms such as fatigue, stomach discomfort, and skin discolouration. It may aid in the prevention of serious complications, including diabetes, liver disease, as well as heart disease. When you’re suffering from one of these diseases, phlebotomy may help to delay or even reverse its course.

Phlebotomy will not cure joint pain or cirrhosis, but this will help to delay its development.

If individuals have cirrhosis, their doctor may advise them to regularly screen for liver cancer. This is frequently followed by a computerised tomography (CT) scan and abdominal ultrasound.

Chelation Therapy

Chelation therapy may be employed in a limited number of instances when frequent phlebotomies are not practicable. This entails taking a medication that eliminates iron from the blood and excretes it in your faeces or urine. Deferasirox is a regularly used medication, although it is not approved to treat hemochromatosis.

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