Glossary

Anaemia
Condition in which the iron needs exceed the iron content of the blood.

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.

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.

 

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

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

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.

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.

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

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

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.

 

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