Hemochromatosis is the number one genetic disorder while, paradoxically, it is also the one that is most often dismissed as "rare." Because it so often goes unrecognized, it is seldom diagnosed before it is clinically manifest. Most of the suffering associated with the disease is preventable if potential victims are detected in time; even when it has become symptomatic, many serious complications are reversible, but only by timely diagnosis and treatment.
It's not a blood disease as the name suggests; the disorder only becomes a disease when sufficient iron has been accumulated to cause the complications. It is thus the only inherited disorder of which all the complications are preventable and the only one that is treatable, with the right intervention. It is transmitted as an "autosomal recessive" disorder. The term homozygote is used to describe those individuals who develop the full-blown disease because they have inherited two hemochromatosis genes — one from each of their carrier parents — and they are thus predisposed to absorb more iron than they are able to excrete. Every child of a homozygote will be a "carrier" — for whom the term is heterozygote — and carriers have been known to exhibit some of the symptoms.
WHAT CAUSES IT?
Primarily an inherited condition, the disease (which in itself is many diseases) has also been known to develop as a result of long-standing dietary intake in sufficient quantity, alcohol excess, multiple transfusions, and other causes, all of which — to make all this easier to comprehend — would come under the heading of "secondary" hemochromatosis.
WHAT ARE THE SYMPTOMS?
They are widespread. Once the excess iron lodges in a vital organ, damaging or even destroying it, it causes much suffering, frequently in the form of diabetes that is often resistant to insulin. When the skin takes on the characteristic colour (in some cases, a "tan that never fades"; in others, a slate grey), this is commonly referred to as "bronze diabetes." Symptoms vary, but many hemochromatotics experience chronic fatigue, severe abdominal pain, bouts of nausea, diminished memory, and disorientation for many years before diagnosis. In later years, there could be some degree of hearing loss.