What is Haemochromatosis?

Hereditary Haemochromatosis is the most common genetic disorder in South Africa as well as in many other countries of the world, afflicting primarily, but not only, those of European descent, THAT OFTEN GOES UNDETECTED.

It is the most common genetic disorder (as declared 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. THIS CAN CAUSE IRREVERSIBLE ORGAN DAMAGE.

This genetic disorder of iron metabolism will cause irreversible organ damage if not detected in time. It is however treatable and need not be fatal if diagnosed early enough.

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 if there is too much of it, which is why one of the major indications of undiagnosed iron overload is liver cirrhosis and cancer (as cancer thrives on iron).

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 iron accumulates in the liver, pancreas, heart and other organs and can cause serious damage and eventually 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.

Who is at risk?

Most of the suffering associated with HH is PREVENTABLE if potential victims are detected at a young age or before organ damage occurs.
Those at risk are persons of European descent, particularly the Irish, Scots, French and English;
as well as those who have a family history of arthritis, diabetes, liver disease or heart failure.  
In particular ALL relatives of an HH sufferer should be tested. As carriers do not necessarily develop symptoms HH can be passed on in a family unnoticed. However, the offspring of 2 carriers will have a 25% (1 in 4) chance of being Homozygous.
Many rural South Africans may also be affected by Acquired Iron Overload through eating food cooked in, and drinking beer brewed in, iron (potjie) pots.
​This condition is not genetic (ie: not inherited).