Haemochromatosis is a hereditary disorder in which the body’s iron levels gradually increase over a long period. Abnormal iron levels are often the only sign of haemochromatosis. Unpleasant symptoms may result from the excessive quantities of iron stored in the body. Without treatment, this condition may cause harm to organs such as the liver, joints, pancreas, and heart if it is not addressed immediately. Furthermore, this genetic disorder primarily affects middle-aged males of white northern European descent. It is especially prevalent in nations with a sizable Celtic population, such as Ireland, Scotland, and Wales. How will you be diagnosed if you have this kind of disorder? There are a lot of tests that may be done, one of the most used being the haemochromatosis test.
How Do Physicians Diagnose This Disorder?
Doctors often detect haemochromatosis based on the findings of a blood test. Doctors may suspect haemochromatosis after reviewing a patient’s medical and family history or during a physical exam. If they suspect it, the easiest way to confirm the disorder is by ordering a haemochromatosis test.
History of Medical and Family
Doctors will start by enquiring about a patient’s medical history, which may include:
- Symptoms of haemochromatosis include feeling tired or weak and joint discomfort and swelling.
- Diabetes and arthritis are two conditions that may arise due to haemochromatosis and its consequences.
- Heart problems, irregular heart beating and shortness of breath.
Additionally, medical professionals will inquire about any family history of haemochromatosis or other health issues such as cirrhosis, also referred to as liver damage.
During a physical examination, the doctor will look for indicators of haemochromatosis, such as anaemia and an abnormal liver function test.
- Skin colour changes
- Liver or spleen enlargement
- Soreness across the liver
- Joint pain and swelling
What Tests Are Used to Detect Haemochromatosis?
Hemochromatosis is diagnosed through blood tests to check the amount of iron or if your DNA carries a faulty gene associated with the condition. Your doctor may order a liver biopsy in various instances, but this is mostly done after you’ve been diagnosed with the condition and as further testing to check if the disease has caused your liver damage.
In most cases, doctors will start with blood tests to screen for gene abnormalities associated with haemochromatosis. A blood test is performed when a healthcare provider draws a sample of your blood and sends it to a laboratory for analysis. Doctors may prescribe blood tests to check for specific conditions:
- Iron levels in the body
- Transferrin levels in the blood, which is the protein that transports iron
- The relationship between iron and transferrin
- Ferritin levels in the blood, which is a protein that stores iron in the liver
A person may have haemochromatosis if there is a high proportion of iron to transferrin in their blood. A high ferritin level is also standard in persons with haemochromatosis, a genetic disorder.
Biopsy of the Liver
Occasionally, physicians may perform a liver biopsy to determine whether or not an iron excess or any other liver illnesses are present. The liver biopsy also reveals if the iron excess has resulted in scarring or long-term damage to the liver tissue. It is a procedure in which a doctor removes tiny pieces of tissue from the liver. A pathologist will use a microscope to analyse the extracted tissue.
Although a small amount of iron is required for healthy cell development, deficiency in this nutrient can also have major consequences. A deficiency in iron can lead to heart failure, a stroke, and a myriad of other health problems. In pregnant women, iron deficiency may cause premature delivery and fibromyalgia, among other problems. Likewise, iron is required for normal skin, hair, and nails. That is why it is important to have your iron levels in order ad this can be ensured only with regular testing.