Hereditary Haemochromatosis

Hereditary Haemochromatosis is a genetic condition in which there is excessive absorbtion of dietary iron, resulting in iron overload – this excess iron accumulates in various organs, ultimately causing organ failure, particularly of the liver, pancreas and heart.

Up to 17% of the Caucasian population of South Africa are carriers of the most common HH gene mutation (C282Y), and up to 1 in 115 could have inherited this gene from both parents, and consequently be at serious risk of loading excessive iron. Yet it continues to be unrecognized or misdiagnosed, not just in SA, but also in the rest of the world.

Symptoms can be difficult to spot, as they are often mild initially, with many potential causes. Fatigue and lethargy are common, and joint pain or arthritis may occur. Sexual problems, particularly impotence in men or loss of menstruation in women, may be an important early sign.

As the iron overload increases, sufferers may experience symptoms of the following diseases.

Liver disease: the liver is the main site of excessive iron build up. The disease causes scarring or liver fibrosis leading to cirrhosis. Symptoms include abdominal pain, jaundice, swelling of the ankles or abdomen and enlargement of the liver or spleen. In severe cases bleeding from the gut or coma can occur.

Heart disease: excess iron deposits may lead to one of two heart conditions. These are heart failure (indicated by tiredness, lack of energy, shortness of breath and ankle swelling) and abnormal heart rhythms. Patients may experience extra heart beats known as ectopics or disorders where the heart goes either too fast (tachycardia) or too slow (bradycardia).

Pancreatic disease: sugar diabetes (diabetes mellitus) may be an early sign of haemochromatosis and develops in up to half of all patients with advanced disease. Diabetes is due to excess iron in the pancreas gland damaging the insulin producing cells. This complication together with the dark skin pigmentation that can occur has led to haemochromatosis sometimes being called 'bronze diabetes'.

Other symptoms: endocrine gland problems particularly with pituitary, thyroid or sex hormones can occur, as can skin, joint and neurological disease.

Diagnosis:

Diagnosois may be confirmed on blood tests (for iron studies, and genetic studies) – liver biopsy may also be required. Screening of relatives of patients with hereditary haemochromatosis is usually recommended .

1. Transferrin Saturation (TS)
TS is the ratio of two simple blood tests, which indicates iron accumulation. Serum iron is divided by total iron binding capacity (TIBC) to give the TS percentage. The test should be performed after an overnight fast. Normal average is 30% (slightly higher in men than women). If on two occasions this is over 55% in men or 50% in women, HH is very likely and one should proceed to measure:

2. Serum Ferritin
This indicates the amount of iron stored in the body. Levels significantly over 300µg/l [micrograms per litre] in men and 200µg/l in women are further evidence of GH.

It should be realised that in the early stages of iron accumulation, serum ferritin may be within the normal range. Raised TS with a normal serum ferritin level does not rule out a diagnosis of HH.

3. Gene Test
A simple blood test for the HFE gene mutation is positive in over 90% of those affected. It will identify family members at risk of loading iron.

4. Liver Biopsy
A small sample of the liver is removed using a biopsy needle, which shows whether tissue damage such as cirrhosis is present. It is recommended when the serum ferritin reading is over 1000µg/l, there is evidence of abnormal liver function, or the HFE test is negative.

Treatment

The main treatment for haemochromatosis is regular bloodletting known as therapeutic venesection. One unit of blood (approximately 450ml) is taken at a time in a similar way to blood donation but much more frequently.

Initially blood and the iron in the red blood cells may be removed weekly until body iron stores return to normal. This may take months or longer. Treatment may be lifelong.

WPBTS provides a therapeutic phlebotomy service throughout the Western Cape to patients who require phlebotomy to treat haemochromatosis (as well as to those who may require regular frequent therapeutic phlebotomy for other reasons, such as primary or secondary polycythaemia).

High risk or medically unfit candidates are not suitable for phlebotomy at our peripheral clinics, and would require assessment and bleeding at our HQ in Pinelands. Medically unfit patients may need to be bled by their physicians at their consulting rooms.

WPBTS would like to confirm the areas of responsibility with regard to the therapeutic phlebotomy programme.

Patient's physician: Diagnosis and overall medical management of patient, setting and altering the phlebotomy intervals, regular iron study testing. Referral to specialist haematologist where required.

WPBTS: Pre phlebotomy pulse, BP and haemoglobin check. FBC taken at each therapeutic phlebotomy will be sent to physician.

Patient: Report any unusual symptoms, and regular follow up by their own physician.

The Therapeutic Phlebotomy Clinic Sister can be contacted for enrolment of patients on 021 507 6348, or 021 507 6320.

http://www.netdoctor.co.uk/diseases/facts/haemochromatosis.htm

http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.htm

http://www.haemochromatosis.za.org/index.php?pos=0