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,but not only, 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 organ 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 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.
The Hfe gene was identified in 1996 as being the major gene for Haemochromatosis (HH). It is a recessive, inherited disorder; therefore the risk of loading iron will only develop if each copy of the mutation (one from each parent) is defective. Those who inherit the mutation from both parents are homozygous and are likely to develop the disease, whereas those who inherit from one parent are carriers who may show a lesser increase in iron absorption. Three mutations (C282Y; S65C and H63D) account for more than 80% of cases. The discovery of new genes related to HH continues, particularly relating to Juvenile Haemochromatosis.
If one receives the defective gene from only one parent, the person is a carrier (and as such is called ‘heterozygous’) and will not (necessarily) develop ‘full-blown’ Iron Overload, though he/she may develop slight symptoms.
Carriers will pass the gene on to their children. The offspring of two carriers will have a 25% (1 in 4) chance of being homozygous.
As there are a number of mutations on the Hfe gene other than C282Y, it is possible that a carrier can carry two different defects and as such be a ‘compound heterozygote’, also at risk of loading iron. In South Africa 1 in 6 Caucasians are carriers of HH.
A person with HH will either be homozygous for the C282Y mutation, or may be a compound heterozygote. This person’s parents may have:
a) both been carriers
b) one had HH and one was a carrier,
c) both parents had HH (rare)
Where both parents are carriers it is possible that all children will be affected; all will be carriers or all can be normal.
GRADES OF HAEMOCHROMATOSIS
EFAPH (The European Federation of Associations for Patients with Haemochromatosis), has recently compiled a useful chart categorising Haemochromatosis into 4 grades of Haemochromatosis - from Grade 0 (no clinical signs of the condition) to Grade 4 (organ damage and complications has been detected). This chart can be found on their website at:
Visit the AHS Neonatal Hemochromatosis (NH) Site
The American Hemochromatosis Society AHS has launched a web site for this rare newborn iron disease. Learn more about NH in newborns and the exciting new treatment which offers new hope for pregnant women who have already had an NH baby.
Visit the AHS web site for Neonatal Hemochromatosis (NH) at: