Hemochromatosis: Symptoms, Causes and Treatment

Hemochromatosis is over deposition of iron in the body. The hereditary type of hemochromatosis is actuated by a disruption in the genetic code while the non-hereditary type is actuated by heavy alcohol intake and other disorders. The third type of hemochromatosis is prevalent in adolescents and babies and is caused by disruption of genetic sequence in another gene.

The hereditary type is prevalent among the Caucasian and North European communities in USA, and has a likelihood of five people being affected in 1000. Males are more prone to this condition than females.

Symptoms
The most common symptoms are excessive pain in the joints coupled with fatigue, stomach pain, drop in energy levels, reduction in libido and problems of the heart. A grayish or bronze coloring of skin is a sign. If not diagnosed in time, some serious consequences like arthritis, liver problems, diabetes, heart problems and disruption of adrenal glands are likely. Therefore early detection and diagnosis is very important.

Causes
Our body is a highly advanced bio-molecular machine whose every function is controlled and regulated by the blueprint in the DNA (Deoxyribonucleic acid) macromolecule. One small error in the sequences of DNA can result in major disruptions of body functions. The primary type of hereditary hemochromatosis, that is an overabundance of iron assimilated in the body, is caused by a disruption or mutation in a gene (a part of DNA) which regulates the iron assimilation in the body. It is caused by a disruption in sequence of the HFE gene in the genome.

As a result the carefully calibrated intake ratio for iron is disturbed and people affected by this condition absorb more amount of iron than necessary. Moreover the body has no built-in mechanism for the disposal of iron. Once it is in, it keeps on getting deposited in the tissues of various organs like heart, liver and pancreas.

The two known disruptions in the gene sequence of HFE are C282Y and H63D. Majority of people affected by the hereditary hemochromatosis have two identical copies of the genetic anomaly C282Y inherited one each from his or her mother and father. Many people carry a single copy of this anomaly in their genes. They themselves are not affected by it but are carriers of it.

Second type of hemochromatosis is not inherited but an acquired one. Anemic people, especially those affected with sickle cell, beta-thalassemia major and Diamond-Blackfan type are especially prone to it as they require frequent blood transfusions. These frequent transfusions restore their RBC count and hemoglobin requirement but cause problem of excess acquired iron content. This unfortunately induces iron overload, again causing effects similar to the hereditary version.

The third type of this disease prevalent among adolescents and infants called juvenile and prenatal hemochromatosis is the result of sequence disruption in another gene, hemojuvelin.

The ultimate effect of this iron deposition in various vital organs like heart, liver and pancreas gives rise to problem in their functioning and eventually, failure.

Diagnosis
The method for diagnosing this disease is through blood test and analysis of iron levels in it. A chemical called transferrin is added to the blood sample to test the level of iron in a particular protein in the blood. Various other tests are performed by doctors to thoroughly check the dynamic iron levels in the body and check for the HFE anomaly. Sometimes biopsy of certain organs like liver may be needed. All these tests in totality can confirm the diagnosis.

Treatment
If the symptoms are recognized and diagnosed early, the treatment is quite straight forward. Since this disease causes iron overload, its treatment includes reduction and check in iron levels in the body. This is achieved by regular withdrawal of a small amount of blood at regular intervals, while testing the blood iron levels regularly. It is called phlebotomy. Once the raised levels of iron are brought to normal, a small amount of blood is transfused regularly every 2 – 4 months. After that regular blood test over the year is recommended.

If the disease has gone undetected and caused major damage already in the vital organs like heart, liver or pancreas, surgery may be necessary. In many cases reduction in iron levels does help in rectifying the damage. Arthritis, if caused does not revert by reduction in iron levels and will require other treatments. People whose liver has been affected by hemochromatosis should avoid drinking alcohol and iron-rich foods.

There is some hope for people with hereditary hemochromatosis as research is being conducted on understanding how the genetic anomaly causes a modification in iron assimilation. In future we may have a cure for it.

Whatever the ailment that is affecting you, never lose hope! Understand and educate yourself about it and consult qualified doctors, there is always a way. Being in tune with your body and closely observing it for abnormalities goes a long way in countering ailments before they arise. That way you can nip them in the bud! So make 'Eternal Vigilance' your motto, and take care!