Genetic Haemochromatosis Blood Test

Service Description

Ireland has the highest rates of haemochromatosis in the world. Approximately 1 in 83 are at risk of developing haemochromatosis and 1 in 5 are carriers of the gene. Haemochromatosis is a condition where too much iron builds up in the body, this can lead to some serious health problems as the body can't get rid of the excess iron. Excess iron can build up in various areas of the body: - liver - skin - heart - pancreas - joints - pituatary gland This build-up of iron can lead to tissue and organ damage. Many people with haemochromatosis don't have noticeable symptoms, but when symptoms do appear they vary between individuals. Some common symptoms include: - fatigue and weakness - weight loss - low sex drive - abdominal pain - bronze or grey skin colour - joint pain There are two types of haemochromatosis: 1. Primary Haemochromatosis aka Hereditary Haemochromatosis This results from genetic factors. Usually, someone with this type of haemochromatosis inherits a defective HFE gene from both parents. The HFE gene controls how much iron you absorb from your food. However, not everyone who inherits the genes develops haemochromatosis and researchers are exploring why that is. 2. Secondary Haemochromatosis This results from another medical issue causing the iron build-up. In this disease, red blood cells often release too much iron as they are too fragile. Risk factors for Secondary Haemochromatosis include: - alcohol dependency - a family history of diabetes, heart disease or liver disease - taking too many iron and vitamin C supplements - frequent blood transfusions Our Iron Status Blood Test covers 5 key iron related markers that can be used to determine haemochromatosis. One that is especially important, is Transferrin Saturation, a useful measure of how much iron is bound to the protein transferrin. What does the Genetic Haemochromatosis Blood Test cover? Our test involves the detection of the three most common mutations of the HFE gene, these are: - HFE C282Y - HFE H63D - HFE S65C Who should get the Genetic Haemochromatosis Blood Test? It should be carried out to diagnose or rule out haemochromatosis in symptomatic individuals with evidence of iron overload. Book your Genetic Haemochromatosis Blood Test in Dublin or Kildare today. Results within 7 days. PLEASE NOTE: You are not required to fast for this test and we recommend that you come warm and well hydrated. This is a blood draw test.