Haemochromatosis

Haemochromatosis Health Screening

€150

Serum Iron

Total iron-binding capacity

Unsaturated iron-binding capacity

Ferritin

Liver function tests:

enzymes (AST, ALT, ALP, GGT)

bilirubin,

total proteins and its classes albumin and globulins 

Haemochromatosis Health Screening

This Health screening package includes:

Iron is a mineral used for forming red cells and in the production of proteins. Serum iron measures the level of this mineral in blood.

TIBC (total iron-binding capacity) measures the proteins in blood such as transferrin that can bind with iron and transport it to make blood cells. Transferrin is the primary blood iron-binding protein and it is produced in response to the body’s demand for iron. TIBC is an indirect measurement of transferrin. Transferrin is generally only 25% to 30% saturated with iron. The additional amount of iron that can be bound is the unsaturated iron-binding capacity (UIBC).

Transferrin-iron saturation percentage (TS%) is a mathematical formula where serum iron is divided by TIBC X 100%.

Ferritin is the major iron storage protein for the body and its concentration is directly related to the total iron stores in the body, resulting in a common diagnostic tool in the evaluation of iron status.

The characteristic iron accumulation in organs involves primarily the liver, which can potentially result in impaired organ structure and function. Abnormal liver function tests may be an early sign of haemochromatosis. The liver function tests will measure the levels of liver enzymes such as alanine aminotransferase (ALT), aspartate aminotransferase (AST) and alkaline phosphatase (ALP) and Gamma-glutamyl transpeptidase (GGT), bilirubin and total proteins with its classes albumin and globulins.

Iron plays an important role in our body. One of the main roles of iron is to help our red blood cells transport oxygen to all parts of the body. This mineral is absorbed from the diet through a tightly regulated process. The intestinally absorbed iron is transported in the blood by a protein called transferrin; then it is initially stored in the cells as ferritin and deposited in organs and tissues as haemosiderin.

Haemochromatosis is a disease characterised by excessive iron absorption from the diet resulting in chronic overload that leads to organ and tissue damage and even death if left untreated. Mutations in genes responsible for regulating iron absorption are associated with haemochromatosis.

Mutations in genes responsible for regulating iron absorption are associated with haemochromatosis. The most common cause of iron overload is hereditary Type I Haemochromatosis, also nicknamed the ‘Celtic curse‘. The West of Ireland presents the highest incidence of hereditary haemochromatosis in the world where one-in-83 is predisposed to develop the disease. This genetic disorder is characterised by mutations in the HFE gene and is most common among those of Celtic descent. HFE gene influences iron absorption by modifying the expression of hepcidin, the main controller of iron metabolism and binding to the transferrin receptor, involved in the regulatory mechanism of iron transport.

The iron overload builds slowly before symptoms appear. Commonly the disease is often found in males over 40 and in females, especially those who no longer menstruate. Early detection offers an excellent opportunity to seek early treatment and prevent the development of potentially life-threatening complications related to iron overload. One’s family history of the disease can offer clues that hemochromatosis may be present. This health screening package can detect excess levels of body iron.

Tests on blood 

Unless you are diabetic, we recommend that you fast (not eat any food) for at least 8-10 hours. In general, the best time for blood work is in the morning.  Do drink water while fasting and continue with any prescribed medications following your doctor instructions. Ideally, you should be on a stable diet for two weeks prior to the taking of the blood sample.

Three days prior to blood work avoid vitamin C supplements and reduce consumption of Vitamin C rich juices during this same period. If you have any question, contact us and we will let you know how to prepare for your blood tests.

A small amount of blood will be drawn by trained staff from a vein in your arm using a needle. The procedure is quick and easy. Rarely, some people may feel faint or dizzy while having the blood taken and you may need to lie down to help you to feel better. The procedure may cause some minor discomfort and a small bruise may develop in the area where the needle was inserted. Press over the site where the needle was inserted, keeping your arm straight to reduce likelihood of bruise formation. If you develop redness or inflammation in the same area, seek your doctor for advice.

A laboratory test result is produced after a scientific analysis done on a sample to assess an individual health status.

An abnormal finding may (but not necessarily) indicate a problem that needs to be addressed. We recommend that any abnormal result should promptly be consulted with your GP. Your doctor will evaluate the test results in the context of an overall clinical picture that takes into consideration your age, gender, ethnicity, family history, signs, symptoms, etc.

If you want to learn more how the results of your laboratory test help your doctor in understanding your health status, and in providing you with the right treatment; check labtestsonline.org, a public resource on lab tests that is produced by AACC, a global scientific and medical professional organization dedicated to clinical laboratory science and its application to healthcare.You can also visit www.haemochromatosis-ir.com  if you want to learn more about haemochromatosis or visit http://patient.info for information about health conditions. Please note that this information should not be a substitute for a consultation with your doctor.

Please contact us, we will be happy to clarify any questions pertaining to your test results.

Haemochromatosis Mutation test

€180

C282Y mutation

H63D mutation

Mutations in the HFE gene produce an altered human hemochromatosis protein, also known as HFE (High Fe) protein. The two most frequent HFE mutations associated with haemochromatosis correspond to substitutions in the HFE protein’s chain of amino acids:

  • The C282Y mutation which is a substitution of the amino acid cysteine with the amino acid tyrosine at position 282 (HFE Cys282Tyr) and
  • the H63D mutation, a substitution of the amino acid histidine with the amino acid aspartic acid at position 63 (HFE His63Asp).

The HFE gene normally regulates how much iron we absorb from our diet. Iron is only moved into the blood when there is a need for it. The mechanism by which the altered HFE protein leads to haemochromatosis is still not well understood and it can be explained as a continuously increased intestinal absorption of iron facilitated by the altered HFE protein. For example, when the HFE C282Y gene mutation is present, the altered HFE protein affects the expression of hepcidin and modifies its interaction with the transferrin receptor. As a result, iron regulation is disrupted, and too much dietary iron is absorbed which in turns results in iron overload in the tissues and organs characteristic of type 1 haemochromatosis.

In Ireland, more than 40% of the population carries one or two copies of the C282Y or H63D mutation*. A person who inherits two copies of these mutations, especially for the C282Y mutation, is at higher risk to suffer from haemochromatosis. In addition, people carrying either a copy of each C282Y and H63D mutations may develop the disease. However, as many as 15% of the people who have iron overload have a normal HFE gene and many others with a mutated HFE gene do not manifest iron overload. Therefore, finding of the mutations does not mean that a person will develop haemochromatosis but indicate an increased risk where men are more likely to be affected than women, and help to identify family members carrying the mutations of a person with genetic hemochromatosis.

*Byrnes V. Genet Test. (2001);5(2):127-30. DOI: 10.1089/109065701753145583

Tests on blood 

No preparation is needed prior to the taking of the blood sample. Do drink water while fasting and continue with any prescribed medications following your doctor instructions.  If you have any question, contact us and we will let you know how to prepare for your blood tests.

A small amount of blood will be drawn by trained staff from a vein in your arm using a needle. The procedure is quick and easy. Rarely, some people may feel faint or dizzy while having the blood taken and you may need to lie down to help you to feel better. The procedure may cause some minor discomfort and a small bruise may develop in the area where the needle was inserted. Press over the site where the needle was inserted, keeping your arm straight to reduce likelihood of bruise formation. If you develop redness or inflammation in the same area, seek your doctor for advice.

A laboratory test result is produced after a scientific analysis done on a sample to assess an individual health status.

An abnormal finding may (but not necessarily) indicate a problem that needs to be addressed. We recommend that any abnormal result should promptly be consulted with your GP. Your doctor will evaluate the test results in the context of an overall clinical picture that takes into consideration your age, gender, ethnicity, family history, signs, symptoms, etc.

If you want to learn more how the results of your laboratory test help your doctor in understanding your health status, and in providing you with the right treatment; check labtestsonline.org, a public resource on lab tests that is produced by AACC, a global scientific and medical professional organization dedicated to clinical laboratory science and its application to healthcare.You can also visit www.haemochromatosis-ir.com  if you want to learn more about haemochromatosis or visit http://patient.info for information about health conditions. Please note that this information should not be a substitute for a consultation with your doctor.

Please contact us, we will be happy to clarify any questions pertaining to your test results.

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Approved by Irish Life Health

Check with your provider if our outpatient service is covered under your plan.

 

 

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Approved by Irish Life Health.
Check with your provider if our outpatient service is covered under your plan.