Iron is a very important mineral in the body. It is found in the blood, particularly, in the hemoglobin of red blood cells and also in the myoglobin of muscle cells.
Iron plays an important role as it is responsible for transporting oxygen and carbon dioxide in the body. We all know that when the body is deficient in iron, anemia occurs. When this occurs, the body’s red blood cells can’t carry enough oxygen in the body because they need iron. This is the main reason why people with anemia feel fatigued.
Now, there is another form of disorder where in the body has excess iron. Hereditary hemochromatosis or hereditary haemochromatosis (HH) is a disorder that is genetic in nature. It causes the retention of an excessive amount of iron in the body. This particular condition is more common with Northern European Caucasians.
Normally, the balance of the body’s iron content is controlled by the quantity of iron that is stored within the body. Iron may be depleted when a person sweats, expelled from cells within the intestines, or shed off from the skin. When a woman has her monthly period, a bigger amount of iron could be lost as well.
It is then regained regularly from a person’s dietary sources through the intestines. In the case of hereditary hemochromatosis, there is impairment in this normal process and excessive quantities of iron are absorbed from the body’s intestines apart from what is already stored within the person’s body. The result is an iron overload.
Every person has chromosomes present in each cell of his body amounting to 23 pairs. Each pair has one chromosome coming from each parent. They contain DNA that holds a genetic outline of each function and activity that goes on in the body. When a DNA structure experiences any type of disturbance, it can cause certain genetic conditions that an offspring may be likely to inherit.
Hereditary hemochromatosis or HH is believed to be the product of genetic mutation, wherein both the genes of parents have a certain type of mutation. This is referred to as the autosomal recessive process. The HFE gene, which is located in chromosome number 6, is believed to be accountable for hereditary haemochromatosis. Major mutations for HH include the H63D, S65C, or the C282Y. What these numbers signify is the location where the mutation can be found in the chromosome 6 gene.
When there is an iron overload, several organs of the body could be adversely affected. The signs would include brownish discoloration of the skin, liver cirrhosis, diabetes mellitus, arthritis, heart conditions, and sexual dysfunction. A lot of these symptoms may also occur in other conditions unrelated to hereditary haemochromatosis. Aside from that they could also manifest in different degrees for those who do have this particular disorder. For this reasons, it is not rare that a diagnosis for this condition is sometimes delayed.
Hemachromatosis diagnosis begins by performing certain tests including blood tests to check on ferritin levels. A test for transferrin saturation is conducted as well. It is also required that genetic tests be done to know for sure whether hereditary hemachromatosis is actually existent.
It is this potential for serious complications that after a positive diagnosis is rendered on an individual, first degree relatives are encouraged to undergo tests, too. Screening may be performed by measuring serum ferritin and transferrin saturation. The sooner this disease is diagnosed, ideally in those that are 20-30 years old, the better. At this point HH screening is not yet recommended for the entire population. But those at risk are encouraged to be more proactive when a suspicion of HH is presented.
Some people are afraid to go to the doctor because they imagine worst case scenarios. This is not a good reason to delay in this case. Treatment for hemochromatosis takes as long as two years because it’s a process that involves a series of phlebotomy, twice a week, until the excess is removed. Do not delay! The sooner you start, the sooner you’ll feel better.
