Irish Haemochromatosis Association Glossary of Terms
Liver Biopsy:
a procedure where a tiny sample of the liver is removed so that it can be viewed under microscope. The procedure helps determine what is occurring in the liver and the extent of liver damage.

Liver Function tests:
Liver function tests are blood tests used to assess the general state of the liver.They can indicate the presence of damage or inflammation. When liver cells are injured,certain enzymes that are normally found in liver cells may leak out and find their way to the blood.

Mutation:
is a change in a gene.
The HFE gene is the gene thatcontrols iron absorption. If the HFE gene is defective as a result of a mutation it can lead to Haemochromatosis.

Osteoporosis:
a general term describing any disease process that results in the reduction in bone mass.

Pancreatitis:
inflammation of the pancreas. Chronic pancreatitis usually follows recurrent attacks of acute pancreatitis. Pancreas gradually becomes unable to supply digestive juices and hormones necessary for good health.

Phlebotomy:
therapeutic withdrawal of blood.

Plasma:
the liquid part of the blood and of the lymph.

Platelets:
a round or oval disk found in the blood.

Polycythemia:
increase in red blood cells in the body. The disease has three forms. Polycythemia vera involves over production of red blood cells, white blood cells, and platelets. Secondary polycythemia is a complication of diseases or factors other than blood cell disorders. Stress polycythemia involves decreased blood plasma.

Rheumatoid Arthritis:
inflammatory condition characterised by joint disease that involves muscles, cartilage, and membrane linings of the joints. Three times more common in women than men. Symptoms include red, warm, painful joints usually symmetric, ie. Affects both sides. Sometimes accompanied by weakness and fatigue.
Thyroid gland: large endocrine gland located in the throat area, which produces a hormone that regulates metabolism.

Total Iron Binding Capacity (TIBC):
a measurement of all proteins available for binding free iron in the body; an indirect but accurate measure of transferring. Increased TIBC levels may indicate iron-deficiency anaemia; a decreased TIBC may indicate cirrhosis or several types of anaemia.

Transferrin(TS):
saturation measures the percentage of iron bound to the protein that carries it in to the blood stream.
TS is usually 25-35% saturated with iron.
TS molecules that are heavily saturated lose the ability to tightly bind iron.
Measurement of TS saturation is the single best screening test for haemochromatosis. As a general rule in venesection therapy, the TS of most patients should fall below 50% when sufficient de-ironing has occured .

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