How do I know if I have HFE hereditary haemochromatosis?

HFE hereditary haemochromatosis is a genetic disorder characterized by excessive absorption of dietary iron by the body. It is one of the most common genetic disorders in people of Northern European descent. If left untreated, it can lead to iron overload in various organs, potentially causing serious health problems.

Diagnosing HFE hereditary haemochromatosis involves a combination of clinical evaluation, genetic testing, and laboratory tests. Here are some key indicators that may suggest the presence of this condition:

1. Familial history: If you have a close family member (parent, sibling, or child) who has been diagnosed with HFE hereditary haemochromatosis, you may have an increased risk of inheriting the condition.



2. Symptoms: The early symptoms of HFE hereditary haemochromatosis can be nonspecific and easily overlooked. They may include fatigue, joint pain, abdominal pain, weakness, and unexplained weight loss. However, it's important to note that not everyone with the condition experiences symptoms.



3. Physical examination: During a physical examination, your healthcare provider may look for signs of iron overload, such as an enlarged liver or spleen, skin discoloration (bronze or gray), or joint abnormalities.



4. Laboratory tests: Blood tests are crucial in diagnosing HFE hereditary haemochromatosis. The most common test measures the amount of iron stored in your body (serum ferritin level). Elevated ferritin levels may indicate iron overload. Additionally, transferrin saturation and liver function tests can provide further insights.



5. Genetic testing: Genetic testing can confirm the presence of specific mutations in the HFE gene, which are strongly associated with HFE hereditary haemochromatosis. The two most common mutations are C282Y and H63D. However, it's important to note that not all individuals with these mutations develop iron overload.

If you suspect you may have HFE hereditary haemochromatosis based on the aforementioned factors, it is crucial to consult with a healthcare professional. They will evaluate your medical history, perform necessary tests, and provide appropriate guidance. Early detection and treatment can help prevent complications associated with iron overload.