Hemocromatose: Sintomas, Causas e Tratamentos

What is it?

An excess of iron in the body. Every organ, joint, and muscle needs to be in balance for the whole system to function properly. The fluid that drives this complex architecture is blood

Essential for life, blood is composed of white and red blood cells. White cells, or leukocytes, are the body’s defense army. Red cells — which contain hemoglobin — are responsible for transporting oxygen to the cells and removing carbon dioxide. This is part of the body’s energy production and release process, which requires the iron to function properly

With that in mind, one might think that the more iron you consume, the more energy you’ll have. But in this case, the logic is quite different. A healthy adult has between 40 and 160 micrograms of iron in their blood — the recommended level. Levels above that are a sign of a problem

However, some people accumulate more iron than necessary. This is the case for individuals with hemochromatosis — a genetic alteration that causes the body to absorb excessive amounts of iron or fail to eliminate it properly

Excess iron in the blood can cause “rusting” of organs, leading to different consequences depending on the part of the body affected. In the liver, high levels of iron can cause cirrhosis; in the pancreas, diabetes; in the heart, heart failure; and in the glands, dysfunction and hormonal production issues

“Fortunately, only a few patients develop more serious and acute problems,” notes Dr. Nelson Hamerschlak, coordinator of the Hematology and Bone Marrow Transplant Program at the Albert Einstein Israeli Hospital (HIAE)

Incidence

In the United States, hereditary hemochromatosis is the most common genetic disorder. There, one in every eight people carries the mutation gene. The proportion of Americans with both genes — which increases the risk of developing the disease — is one in every 200 people, according to the U.S. Centers for Disease Control and Prevention (CDC)

In Brazil, there are no precise estimates. A study started in 2001 by the Faculty of Medicine at Santa Casa de São Paulo showed that, among blood donors, the presence of mutations related to hemochromatosis ranges from 7% to 20%. The number of individuals carrying both genes — which lead to the development of the disease — is not confirmed in Brazil, but internationally, the percentage is around 1% of the population

Causes

The exact cause of hemangiomas has not yet been defined

Diagnosis

Although the disease is more likely to develop in individuals who carry both mutated genes, people who are heterozygous — meaning they carry only one gene — should also be evaluated periodically. This is especially important if they present symptoms or have other conditions that may affect the function of an organ. For example, having hemochromatosis with iron accumulation in the liver along with fatty liver disease, known as steatosis

Types

In addition to hereditary hemochromatosis, which is the most common type, there are other variations. The most severe of these is secondary hemochromatosis, which is found in patients who develop hemolytic anemias or in those who undergo frequent blood transfusions

Symptoms

The symptoms of hemochromatosis are very diverse and may also be present in other clinical conditions. Therefore, diagnosis is made through a blood test that measures ferritin levels and iron saturation
“It’s not complicated at all and can be included in any routine check-up,” says the doctor

Diagnosis

In addition to blood tests, there are alternative diagnostic methods, one of which is genetic testing. Although it analyzes the patient’s genes, the test only detects the most common genetic mutations; therefore, a negative result does not necessarily mean the patient does not have hereditary hemochromatosis

“Based on the blood test results, any patient with high ferritin or iron saturation levels — even with negative genetic results — should be further investigated,” explains Dr. Hamerschlak. Another method involves weekly blood collection over a period of four to six weeks. These samples are used to evaluate red blood cell levels

“People with hemochromatosis do not develop anemia. It’s a therapeutic test,” says the doctor

Einstein Hospital offers a specific test to monitor iron levels in organs. It is a magnetic resonance imaging (MRI) scan developed for this purpose. The goal is to assess the main organs that store iron, such as the liver and pancreas, and to observe the extent of damage caused by the mineral

Treatment

The most common treatment is therapeutic phlebotomy, which is similar to blood donation, with the difference that the blood is discarded after collection. Blood is removed periodically in two phases: the first involves short intervals, one to two times per week. In the second phase, the interval between sessions is increased based on the patient’s improvement

The treatment is effective as long as there is no permanent damage, such as cirrhosis. It is possible to live well with the condition by maintaining regular monitoring through blood tests and MRI scans. Additionally, iron intake should be carefully managed

“It’s important to know that meat is the main source of iron. I don’t advise anyone to become vegetarian, but it’s good not to overdo it,” explains Dr. Hamerschlak. Another recommendation from the doctor is to consume tea and milk, as they reduce iron absorption in the body

For those with high levels of iron in the blood, it is advisable to avoid raw fish and oysters. These foods may contain microorganisms such as Vibrio and Yersinia, which can cause more severe infections in people with hemochromatosis

By the Einstein Editorial Board