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 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 Heterozygous/gote: Having one copy of the HFE gene with mutation C282Y and the other with mutation H63D.

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.

Ferroportin Disease: See Type 4 haemochromatosis below.

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.

Haematology: Medical science / study of the blood.

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

Hepatology: Medical science / study of the liver.

Heterozygous/gote: Having one of the two copies of a gene with a mutation (a carrier).

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.

Homozygous/gote: Having both copies of a gene with the same 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.

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

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.

Phlebotomy: Blood-letting, also called venesection.

SF: Serum ferritin, a blood test, see Testing page.

THS: The Haemochromatosis Society, a patient and membership organisation.

TS: Transferrin saturation, a blood test, 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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