Diagnosis


Tests for haemochromatosis:

Two simple tests done on one blood sample can detect the presence of iron overload. They are: TS and SF and are usually a fasting blood test.

These tests measure:

Transferrin Saturation
Serum Ferritin

Normal range for Iron studies:

Males                                           Females
Serum iron: 10-30                         8-27 umoles\L

Serum ferritin: 20-300                   10-200 ug\L

Transferrin Saturation: 10-50%      10-30%

If these tests are elevated on 2 or more occasions then a DNA test is performed to identify the type of haemochromatosis. If the gene test is positive for either of the known mutations, it is then called HFE haemochromatosis.
There is also non-HFE haemochromatosis; work is being done on this iron overload disorder.


Factors that influence toxicity in haemochromatosis:

Gender:

Women are less affected because of physiological blood loss in menstruation and/or childbirth. Estrogens may exert anti-fibrotic effects on the liver and other organs.

Age
The older one is, the more time iron has had to accumulate in the body.

Intake of iron-rich food, water.

Iron supplements.

Blood transfusions.

Intravenous heme therapy.

Blood loss.

Blood donation

Co-existence of conditions that increase iron absorption:
Dyserthropoietic anaemia, hemolytic anaemias, thalassemias,

Alcohol intake,

Vitamin C intake

Porto-systemic shunts.

Other diseases affecting end-organ targets.

Liver: Chronic viral hepatitis, alcoholic liver disease, (NASH= non-alcoholic steatohepatitis =(fatty liver)), cryptogenic cirrhosis.

Pancreas: Alcoholic pancreatitis, hereditary pancreatitis, obesity, insulin resistance.

Joints: Osteoarthritis, rheumatoid arthritis, other arthritides.

Heart: Alcoholic myocardiopathy, viral myocarditis, ischaemic cardiac disease.

Hypogonadotropic: Hypogonadism usually does not respond to treatment, but venesections can restore pituitary and gonadal function in those patients with endocrine abnormalities of recent onset.

Sexual potency in hypogonadic men can be restored with i.m testosterone replacement.

In women, menstruation and successful pregnancy can be obtained with gonadotrophic and hormonal therapy.

Liver damage should have regular follow up of ultrasonography and AFP blood test twice yearly.

Cardiac echocardiography in early stages detects the presence of interventricular septal thickness that reflects iron deposition.


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