Irish Haemochromatosis Association Glossary of Terms
Anaemia
condition in which the iron needs exceed the iron content of the blood.

Anaemia, iron deficiency:
anaemia caused by blood loss, dietary insufficiencies, or rapid growth where iron demands exceed intake and stores.

Anaemia, pernicious:
anaemia caused by inadequate absorption of vitamin B12 due to the absence of intrinsic factor, a substance secreted by the mucous membranes of the stomach.

Anaemia, sickle cell:
severe, incurable anaemia that occurs in people who have an abnormal form of haemoglobin in their blood cells. It is an inherited disease and derives its name from the sickle- shaped cells that are present with this disorder.

Angina:
chest pain or pressure usually beneath the sternum (breastbone). Caused by inadequate blood supply to the heart. Often brought on by exercise, emotional upset, or heavy meals in someone who has heart disease.

Angioplasty:
the use of surgery to make a damaged blood vessel function properly again; may involve widening or reconstructing the blood vessel.

Arrhythmia:
an irregular heartbeat, may be rapid or seeming to skip beats.

Arthritis:
inflammatory condition of the joints, characterised by pain, stiffness, and swelling.

Arteriosclerosis:
common disorder of the arteries characterised by thickening, loss of elasticity, and calcification of artery walls. Results in decreased blood supply to the brain and lower extremities. Typical signs include pain on walking, poor circulation in feet and legs, headache dizziness and memory defects.

Beta – blocker:
a drug used to treat hypertension (high blood pressure), heart arrhythmia, circulation and sometimes angina or migraines. Drug slows the heart rate and reduces pressure inside blood vessels. Beta- blockers can also regulate heart rhythm.

Bilirubin:
red blood cell waste product in bile, orange- yellowish in colour; blood carries it to the liver. It contributes to the yellow colour of urine. Jaundice occurs with abnormal accumulation of bilirubin in the blood and skin. Increased bilirubin level may also be involved in extensive liver damage.

Biopsy:
removal of small amount of tissue or fluid, usually by needle, for laboratory examination; aids in diagnosis.

Blood Pressure:
measure of tension caused by blood pressing against the walls of the arteries as it flows through the body.

Bone marrow:
specialised soft tissue that fills the core of bones. Most of the body’s red and white blood cells are produced in bone marrow.

Chromosome:
structures inside the nucleus of living cells that contain hereditary information. Defects in chromosomes cause many birth defects and inherited diseases.

Chronic:
long-term; continuing. Chronic illnesses are usually not curable, but they can often be prevented from worsening by controlling symptoms.

Cirrhosis:
a chronic disease of the liver causing loss of function of liver cells and decreased blood flow through the liver.

Complete Blood Count (CBC):
The number of red corpuscles and white blood cells in a given measure of blood. A CBC will determine haemoglobin and haematocrit counts.

Compound Heterozygote:
If an individual has the C282Y mutation on one chromosome and the H63D on the other,these individuals are compound heterozygotes.In Ireland 1 in 25 are compound heterozygotes.
Heterozygote-If an individual has only one mutated gene, the person is referred to as a heterozygote.This person is a carrier .One in five people in Ireland are carriers.

Congenital:
present at, and existing from, the time of birth.

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