Irish Haemochromatosis Association Glossary of Terms
Diabetes:
either of two disorders – diabetes insipidus or diabetes mellitus. Insipidus denotes a metabolic disorder of the hormone system caused by a deficiency of antidiuretic hormone (ADH) normally secreted by the pituitary gland. Usually a temporary condition. Characterised by passage of large amounts of diluted, colourless urine (up to 15 quarts a day), unquenchable thirst, dry skin and constipation.
Diabetes mellitus is a chronic metabolic disorder due to insufficient insulin, symptoms include excessive thirst and urination, weight loss, excess sugar in urine and blood. Two forms of diabetes mellitus are type 1, or juvenile-onset diabetes, and type 2 or adult- onset diabetes. Treatment depends upon ability to produce insulin. Insulent dependent: those with an inability to produce enough insulin to process carbohydrates, fat and protein efficiently will require insulin injections. non insulin dependent – most prevalent amongst obese adults often controlled with weight loss exercise and diet.

Ferritin:
a complex protein formed in the intestine, containing about 23% iron, the amount found in serum is directly related to iron storage in the body. Increased ferritin levels may indicate iron loading and conditions such as haemochromatosis, certain types of anaemia etc.

Folic acid:
part of the B complex of vitamins and needed for normal function of red and white blood cells.

Haemochromatsois:
genetic metabolic disorder in which excessive iron may accumulate in the liver, pancreas, heart, brain, and skin resulting in liver disease, diabetes mellitus, heart attack, depression, impotence, and a bronze or ashen grey – green skin colour. It is a condition in which an excess of iron is absorbed from the diet and stored in the body.

Haematocrit (Hct):
the percentage of total blood volume consisting of red blood cells, found by centrifuging the whole blood and measuring the volume of red cells in a given volume of blood. Decreased haematocrit levels are associated with anaemia, hyperthyroidism, cirrhosis, bone marrow failure and numerous other pathogenic conditions.

Haeme:
the iron-containing portion of the haemoglobin molecule.

Haemoglobin:
the iron containing pigment of red blood cells that carries oxygen from the lungs to the tissues.

Haemosiderosis:
a condition marked by excessive iron in the tissues especially in the liver and spleen.

Hepatitis:
inflammatory liver condition.

Homozygous:
if an individual has the C282Y mutation on both chromosomes that person is referred to as being homozygous for C282Y . In Ireland it is estimated that 1in 80 people in the general population are homozygous for C282Y
An individual can also have the H63D mutation on both chromosomes and this person would be homozygous for H63D

Hyperthyroidism:
over activity of the thyroid, an endocrine gland that regulates all body functions.

Hypothyroidism:
an underactive thyroid gland which results in decreased metabolic rate.

Iron overload:
too much iron in the body, excess accumulates in vital organs resulting in disease.

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