Glossary

This is a short glossary of abbreviations and terms (in alphabetical order) you may come across when you are diagnosed and as you read more about haemochromatosis. You can also search this whole site for information about any term you come across using the search symbol (magnifying glass) at the top of this page.

If your doctor or consultant uses terminology you do not understand, never be afraid to ask him or her to explain things to your satisfaction.

Please email office@haemochromatosis.org.uk with any suggestions of terms or acronyms that could be included here.

Acquired (aka secondary) haemochromatosis: Haemochromatosis that arises as a result of non-genetic causes, for example excessive blood transfusion or overuse of iron supplements.

Carrier: Having one of the two copies of a gene with a mutation (a heterozygote).

Chelation: Drug therapy to reduce iron in the body, only used when venesection is not possible in a particular patient.

Compound Heterozygote (n), Compound Heterozygous (adj): A person with two different mutations on each of the two copies of a gene, for example 1 mutation of H63D and 1 mutation of C282Y, or 1 mutation of H63D and 1 mutation of S65C.

De-ironing: The process of removing iron from organ/tissue storage through venesection (blood-letting) or chelation treatment.

DNA: Deoxyribonucleic Acid, the genetic material of all living organisms. It carries all the genetic information that is needed in the form of a variation in molecular structure.

Dx: Medics’ shorthand for diagnosed or diagnosis.

Endocrinology: Medical science / study of hormones and related systems.

Fasting blood test: A blood test that is taken 12 hours after the consumption of food and drink (aside from water.)

Ferritin: A protein that transports iron in the bloodstream.

FerriScan®: An MRI-based test (developed by Resonance Health Ltd.) that measures the concentration of iron in the liver (see LIC).

Ferroportin Disease: See Type 4 haemochromatosis below.

FibroScan®: A scan that uses elastography (ultrasound) to measure liver stiffness. Developed by Echosens™.

Gastroenterology: Medical science / study of the digestive and related systems.

Gene: One of 30,000 or more pieces of DNA carried in all our cells, that code all the instructions for how our body is formed and operates.

GH: Genetic haemochromatosis, also known as hereditary haemochromatosis.

Haem iron: Dietary source of iron found in meat, meat products and fish.

Haematology: Medical science / study of the blood.

Haemoglobin (Hb): the essential oxygen carrying pigment of the red blood cells, which contains iron.

Hepatology: Medical science / study of the liver.

Hepcidin: A protein which regulates the processing and absorption of iron in humans and some other mammals.

Heterozygote (n), Heterozygous (adj): A person with a mutation on one copy and one normal gene. This means that they ‘carry’ associated conditions so are referred to as carriers.

HFE Gene: The gene, one of about 30,000 in our bodies, that plays a major role in controlling iron absorption in the body.

HH: Hereditary haemochromatosis, also known as genetic haemochromatosis.

Homozygote (n), Homozygous (adj): A person with the same mutation on both copies of a gene, for example both copies of the HFE gene having the C282Y mutation.

Iron overload: Condition whereby as a result of the genetic mutation the body absorbs iron to the extent that it becomes toxic.

Juvenile haemochromatosis: Extremely rare and genetically distinct form of GH severely affecting young people. Also known as Type 2 haemochromatosis.

Liver function test (LFT): Blood test which gives an indication of liver inflammation and potential damages of changes in its ability to function properly.

Liver iron concentration (LIC): A measure of the amount of iron deposited in the liver, also representative of the total broader body storage iron.

LiverMultiScan: An MRI-based test (developed by Perspectum Diagnostics) to detect liver iron and liver damage.

Maintenance: Regular but infrequent venesection to maintain iron levels once reduced.

MRI scan: Magnetic resonance imaging (MRI) is a type of scan that uses strong magnetic fields and radio waves to produce detailed images of the inside of the body.

Mutation: A change in a gene. Many changes do not cause problems and are more properly referred to as “variants”.

Mutation C282Y / Mutation H63D: Technical terms for the exact nature of the two mutations most common on the HFE gene in haemochromatosis.

Non-haem iron: Dietary iron source found in cereals, fruits, vegetables, beans, pulses and nuts.

Phlebotomy: Blood-letting, also called venesection.

Rheumatology: Medical science / study of arthritis and other musculoskeletal conditions affecting joints, bones, muscles and soft tissues.

Serum ferritin (SF) test: A blood test that measures the amount of ferritin circulating in the blood serum. Results are shown as a number. See Testing page.

The Haemochromatosis Society (THS): A patient and membership based charitable organisation.

Transferrin: An iron-binding blood plasma glycoprotein that controls the level of free iron in biological fluids.

Transferrin saturation (TS) test: A blood test that measures the amount of iron that transferrin can bind and transport in the serum. Results are shown as a percentage figure. See Testing page.

Type 1 haemochromatosis: Haemochromatosis as a result of mutations in the HFE gene, the vast majority of cases are Type 1. A recessive condition.

Type 2 haemochromatosis: Juvenile Haemochromatosis caused by mutations in either the HFE2 or HAMP gene. A recessive condition.

Type 3 haemochromatosis: Rarer form of haemochromatosis as a result of mutations in the TFR2 gene. A recessive condition.

Type 4 haemochromatosis: Rarer form of haemochromatosis as a result of mutations in the SLC40A1 gene. Also known as Ferroportin Disease. Type 4 hemochromatosis is distinguished by its autosomal dominant inheritance pattern. With this type of inheritance, one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.

Detailed information about the 4 types of GH is at this link:
http://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis

Venesection: Blood-letting, also called phlebotomy.

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