Genetic Haemochromatosis

Genetic Haemochromatosis Blood Test

The Genetic Haemochromatosis Blood Test is a crucial diagnostic tool for detecting haemochromatosis, an iron overload disorder. This test is essential in identifying individuals at risk for symptoms of haemochromatosis due to variants in the HFE gene.

What does the test look for?

The test primarily measures the transferrin saturation level and serum ferritin level in the blood. These biomarkers indicate the amount of iron bound to transferrin in the blood and the amount of iron stored in the body, respectively. Additionally, the test may also involve DNA analysis to identify variants in the HFE gene associated with hereditary haemochromatosis.

How can this test help you?

The results of the Genetic Haemochromatosis Blood Test can guide treatment and lifestyle changes. By identifying the presence of haemochromatosis early, appropriate measures can be taken to manage iron levels in the body and prevent organ damage, particularly to the liver.

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Conditions & Symptoms

Persistent symptoms of haemochromatosis, such as fatigue and joint stiffness, may prompt someone to have this test. Additionally, if a parent or sibling has been diagnosed with haemochromatosis, you may be at risk of developing the condition, even if you do not have any symptoms.

What to expect on the day of your test

On the day of your test, a blood sample will be taken for analysis. There is typically no special preparation required for this test.

Test Analysis

The analysis of the Genetic Haemochromatosis Blood Test involves measuring the transferrin saturation level and serum ferritin level in the blood. These measurements indicate the amount of iron in the blood and the body's iron stores, respectively. If these levels are high, further DNA analysis may be conducted to identify variants in the HFE gene associated with hereditary haemochromatosis.

Additional Resources

For further information or support related to the test, visit the NHS website or the British Heart Foundation's page on haemochromatosis.

References

1. Labcorp. Hereditary Hemochromatosis, DNA Analysis. https://www.labcorp.com/tests/511345/hereditary-hemochromatosis-dna-analysis
2. NHS. Haemochromatosis - Diagnosis. https://www.nhs.uk/conditions/haemochromatosis/diagnosis/
3. Hemochromatosis Help. Hemochromatosis Lab Testing. https://hemochromatosishelp.com/hemochromatosis-testing/
4. British Heart Foundation. What is haemochromatosis? https://www.bhf.org.uk/informationsupport/heart-matters-magazine/medical/haemochromatosis
5. Mayo Clinic. Hemochromatosis. https://www.mayoclinic.org/diseases-conditions/hemochromatosis/diagnosis-treatment/drc-20351448

• Labcorp. Hereditary Hemochromatosis, DNA Analysis. https://www.labcorp.com/tests/511345/hereditary-hemochromatosis-dna-analysis
• NHS. Haemochromatosis - Diagnosis. https://www.nhs.uk/conditions/haemochromatosis/diagnosis/
• Hemochromatosis Help. Hemochromatosis Lab Testing. https://hemochromatosishelp.com/hemochromatosis-testing/
• British Heart Foundation. What is haemochromatosis? https://www.bhf.org.uk/informationsupport/heart-matters-magazine/medical/haemochromatosis
• Mayo Clinic. Hemochromatosis. https://www.mayoclinic.org/diseases-conditions/hemochromatosis/diagnosis-treatment/drc-20351448