Hereditary haemochromatosis is a genetic disease that causes the body to absorb too much iron from food eaten. Excess iron is stored in the body’s organs, especially the liver, heart and pancreas.
Too much iron-damaged organ damage causes life-threatening disorders such as cancer, heart disease and liver.
Hereditary haemochromatosis is caused by mutations of genes that control the amount of iron that the body absorbs from food. Mutations that cause hereditary hemochromatosis are passed on from parents to their children.
Genes that mutate in people with hereditary hemochromatosis are called HFE. A child inherits one HFE gene from each parent. If both parents pass the mutated HFE gene to their child, the child can develop hemochromatosis.
The HFE gene has two common mutations, C282Y and H63D. Genetic testing can reveal whether a person has a mutation in the HFE gene or not.
If someone inherits two abnormal genes, he can develop hemochromatosis, but not everyone with two abnormal genes has signs and symptoms of hemochromatosis.
If a person inherits an abnormal gene, he will not experience hemochromatosis. But the body may absorb more iron than normal. He is considered a carrier of gene mutations and these mutations can be passed on to his children.
How does haemochromatosis affect the organs?
Iron plays an important role in several body functions, including helping blood formation. Most people absorb about 10 percent of the iron that is swallowed. When the body has enough to store iron, the body reduces the amount of iron absorbed by the intestine to avoid excessive buildup.
In patients with hereditary hemochromatosis, the body absorbs as much as 30 percent of the iron that is swallowed. Because the body cannot use or remove additional iron, iron is stored in organ tissues, especially the liver.
Finally, the body can accumulate five to 20 times more iron than normal. Over the years, excessive iron stockpiled can damage organs, cause organ failure and chronic diseases such as liver cancer and diabetes .
Types of hemochromatosis
Other forms of hemochromatosis include:
- Juvenile haemochromatosis – In this hemochromatic, iron accumulation begins much earlier and symptoms usually occur between the ages of 15 and 30 years. Although hemochromatosis is also an inherited disease, the genetic disorder that causes it does not involve the HFE gene, but is caused by mutations in the gene called hemojuvelin.
- Neonatal haemochromatosis – In this disorder iron accumulates rapidly in the baby’s liver and can cause death.
Early signs and symptoms of hereditary hemochromatosis are similar to other common symptoms, making it difficult to diagnose. Signs and symptoms include:
- Loss of sex drive (libido) or impotence
- Menstrual lack of normal (amenorrhea)
- Pain in the right upper abdomen
Some sufferers of hereditary hemochromatosis have no symptoms, while others experience various problems. These symptoms vary in people and may be different for men and women.
Although hereditary hemochromatosis is present at birth, most people do not experience signs and symptoms until later on, usually between the ages of 30 to 50 years in men and after age 50 in women. Women generally experience symptoms after menopause, when they no longer lose iron through menstruation and pregnancy.
Treatment can be done with treatment and medication.
Treatment of hereditary hemochromatosis can be done by removing blood from the body regularly, just like donating blood. This method is called phlebotomy. But in this case, the goal is to reduce iron levels above normal.
The amount of blood taken depends on age, overall health and severity of iron overload. Some people need lots of phlebotomy to achieve normal iron levels.
The initial schedule of treatment
Initially, blood can be taken once or twice a week in a hospital or doctor’s clinic. After iron levels return to normal, patients may need to get blood intake four to six times a year.
Treating hereditary hemochromatosis before damage to organs can prevent serious complications such as liver disease, heart disease and diabetes.
If the patient already has one of these complications, the process of bleeding can slow the progression of the disease, and in some cases even cure. If the patient already has liver cancer, the doctor can recommend periodic screening by performing an abdominal ultrasound and blood test.
In certain situations, the patient may not be able to undergo the process of removing blood or having heart complications caused by hemochromatosis. Doctors can recommend drugs that help the body remove some iron from the blood.
The medicine can be injected into the body by a doctor or taken in pill form. This drug causes the body to release iron through urine or feces in a process called chelation. Side effects can cause pain and redness where the drug is injected, as well as symptoms of flu.