A COMMON GENETIC DISORDER
Hereditary Haemochromatosis is the most common genetic disorder in South Africa as well as in many other countries of the world, afflicting primarily those of European descent.

...THAT OFTEN GOES UNDETECTED
It is the most common genetic disorder (declared thus by the Centers for Disease Control in Atlanta, GA) yet many physicians, having been led to believe that it is so rare, are not on the alert for signs of the disease...because they simply do not expect to find them.

...THAT CAN CAUSE IRREVERSIBLE ORGAN DAMAGE
This genetic disorder of iron metabolism will cause irreversible damage if not detected in time. It is treatable and need not be fatal.

THE BASIS OF THE DISORDER
Iron is vital for life, but in large doses it can be fatal. It is absorbed by the gut and transported by the protein Transferrin. This protein must not become too saturated by iron in order for it to work properly and bind iron. Saturation should remain between 25-35%. Iron not bound to Transferrin is called ‘free-iron’ and this causes cell damage wherever it is deposited. The first place it ends up is in the Liver, which is why one of the major indications of undiagnosed Iron Overload is liver cirrhosis and cancer (as cancer thrives on iron).

 

 WHAT IS “IRON OVERLOAD”?
Although it may sound like it, haemochromatosis is not a blood disease; it is, in fact, a disorder rather than a disease, and only becomes a disease when sufficient iron has been accumulated to affect one or more vital organs.

Hereditary Haemochromotosis (HH) is a genetic condition in which there is excessive absorption of iron from a normal diet, leading to iron overload. As the body has no natural way of excreting iron, the excess accumulates in the liver, pancreas, heart and other organs causing serious damage and eventually causing organ failure. Symptoms could typically appear in middle age after years of damage, although HH may also affect young persons in their early 20’s, as well as children (juvenile haemochromatosis).

Most of the suffering associated with the disease is preventable if potential victims are detected in time; and even when it has become symptomatic, many serious complications are reversible—but only by timely diagnosis and treatment.

What are the Symptoms?

Early symptoms of iron overload such as fatigue (in 70%), joint pain (40%) and abdominal pain (40%) are non-specific and are commonly not recognised as associated with Haemochromatosis. Moreover, mildly abnormal liver function tests are commonly ascribed to excessive alcohol use. A genetic test, together with iron status, can provide a definitive diagnosis of HH without the necessity of an invasive liver biopsy. SYMPTOMS THAT CAN BE PRESENT INCLUDE: - Chronic fatigue, weakness, lethargy - Arthritis – all joints but particularly between the knuckles of the 1st & 2nd finger (iron fist); knees and hips      – often misdiagnosed as rheumatoid arthritis - Liver disorders - cirrhosis and enlarged live - Late-onset diabetes(due to damage to the pancreas) - Sexual disorders - impotence, loss of libido, testicular atrophy, infertility - Menstrual irregularities (particularly amenorrhea) - Abdominal pain (particularly upper right-quadrant) - Neurological disorders - mood swings, depression, impaired memory - Cardiomyopathy (disease of heart muscle) - irregular heartbeat (arrhythmia), heart failure - Loss of body hair - Hypothyroidism - Cancer (it thrives on iron) - Bronzing/ greying of the skin (permanent tan) - Frequent (unexplained) diarrhoea - Frequent colds/flu, weakened immune system Also frequently misdiagnosed as chronic hepatitis, gall bladder and thyroid problems, gout, rheumatoid arthritis, polycythaemia and iron deficiency. As some sufferers exhibit pronounced mood swings and other personality changes such as severe depression, anger, confusion or diminished memory, they can be incorrectly treated for mental illness. In some cases Alzheimer’s has been suspected.

Visit the South African society web site at: www.haemochromatosisza.org