Research in the field of iron metabolism and blood-related diseases has led to significant advancements. As we discover new data and behaviors, our knowledge expands, allowing us to better understand certain diseases and/or symptoms. This, in turn, enables us to investigate and find solutions to them.
Related to blood, the latest research has been particularly prolific in the field of iron absorption regulation. This is where the hormone we will discuss in this post comes into play: hepcidin. We will explore exactly what it is and how it relates to hemochromatosis (excess iron in the blood).
What is Hepcidin?
Hepcidin is a hormone that controls how iron is used in the body, how it is absorbed, and how excess iron is stored in various organs. As you can see, this peptide is crucial for the proper functioning of the body. The liver is the organ responsible for secreting hepcidin and controlling its levels, and its importance lies in the fact that this hormone is considered to be responsible for regulating the body’s iron reserves, thanks to its ability to degrade ferroportin. This protein, found in the intestinal epithelium and the membrane of macrophages, is responsible for transporting iron from the intestinal cell to the plasma and from the macrophage to the erythron.
It is the physiological cause of iron pumping in intestinal absorption, as well as in the release of stored iron from macrophages to the erythron. The interaction of hepcidin with ferroportin leads to a decrease in iron absorption (which would be obtained through diet and macrophages). Therefore, if hepcidin concentration increases (due to iron overload or inflammation), a blockade in iron absorption occurs (intestinal ferroportin is destroyed), and the release of iron from the mononuclear phagocytic system to the erythron is inhibited. In such cases, inflammatory anemia may develop in the patient.
Iron deficiency anemia results in a reduction of iron in the blood, necessary for the body to produce sufficient hemoglobin. Without this substance, present in red blood cells, oxygen cannot be transported. One cause is the body’s inability to absorb iron from food and transport it into the bloodstream. In most cases, a lack of iron in the blood can be corrected with iron supplements. If the doctor suspects there may be internal bleeding, additional tests or treatment for iron deficiency anemia may be required. But what happens when the problem is that the body stores too much iron?
Hemochromatosis
Iron is an essential nutrient for the proper functioning of the body and, at the same time, toxic in high doses. Evolutionarily, the human body does not possess, as in the case of other minerals, mechanisms for excreting iron. This means that we have no way of getting rid of iron if we consume more than necessary. The control of the amount of iron in the body lies in the regulation of the metal’s intestinal absorption.
Therefore, abnormalities in the control of iron absorption can result in iron deficiency or hemochromatosis. Since the control of iron absorption is the responsibility of hepcidin, deficits in this regulator cause hemochromatosis or anemia. An excess of hepcidin ‘sequesters’ iron from the absorptive cells of the intestinal mucosa and macrophages. The ability to absorb the metal is reduced, and thus its level in the body increases. Hepcidin is unable to control the levels or deliver adequate amounts of this mineral to various parts of the body.
This is when hemochromatosis occurs, a disease that causes the body to absorb more iron than it should. Iron is absorbed in the upper digestive tract above the body’s daily losses. This results in abnormal and dangerous amounts of the mineral in the body.
Other situations may arise where there is an increase in iron in the body:
- Hemolytic anemia.
- External administration of iron.
- Liver diseases (hepatitis C and alcoholic liver disease).
This disease is hereditary, so when a patient is diagnosed with hemochromatosis, first-degree relatives should be studied. If the disease is diagnosed before complications arise, treatment can begin early. The prognosis in these cases is usually very good, and patients can lead a normal life. Their life expectancy is the same as that of a healthy individual. However, if other diseases (cirrhosis, diabetes, hepatocarcinoma, or heart failure) are present when the diagnosis is made, the prognosis will depend on them. These must be taken into account when planning treatment.
Symptoms of Hemochromatosis
Excess iron in the organs can lead to chronic diseases. Typically, the first clinical signs occur between the ages of 40 and 60. Symptoms are usually later in women, as blood loss from menstruation causes periodic iron loss.
The development of symptoms and subsequent disease varies depending on the affected organ:
- Liver. It is the organ most commonly affected by hemochromatosis. An excess of iron can cause cirrhosis and liver tumors (hepatocarcinoma).
- Skin. Most patients develop a bronzed pigmentation.
- Pancreas. It can cause diabetes.
- Joints. It causes progressive osteoarthritis. It can also trigger acute flares (chondrocalcinosis or pseudogout). Additionally, hemochromatosis increases the risk of osteoporosis.
- Heart. It can lead to congestive heart failure and cardiac arrhythmias.
- Hypothalamus and Pituitary Gland. It can result in various endocrine manifestations (hypogonadism and hypothyroidism).
It is often difficult to identify hemochromatosis based on symptoms. However, a blood test can always be used to identify which individuals should remain under supervision. These tests can determine blood levels of:
- Iron.
- Ferritin (a protein that stores iron).
- Transferrin (a protein that transports iron in the blood when it is not inside red blood cells).
If medical personnel find elevated ferritin and iron in transferrin, genetic testing is likely to confirm the diagnosis. A biopsy or magnetic resonance imaging (MRI) may be necessary to determine if the liver is damaged. Genetic testing is usually recommended for people with hemochromatosis. Iron levels should be measured in all their first-degree relatives (siblings, parents, and children) to detect possible hemochromatosis.
Treatment of Hemochromatosis
In cases of hemochromatosis, one of the first steps to counteract it is bloodletting. This technique is also known as phlebotomy or bleeding, where the patient undergoes periodic blood extractions until their iron levels stabilize. Additionally, patients may undergo other treatments such as iron chelation therapy, dietary adjustments, and symptom management for organ damage.
Conclusions
Hepcidin is a key hormone in maintaining adequate iron levels in the body. It is responsible for controlling iron levels in the body and in various organs. If there is a problem with its function, it can lead to hemochromatosis.
This disease is characterized by an excessive amount of iron in the body, which can cause many problems. This mineral, in high doses, can be toxic. Since the body is unable to rid itself of excess iron (if it occurs), it is necessary to follow a treatment to combat hemochromatosis. Normally, to normalize iron deposits, periodic phlebotomies will be used. However, if the patient suffers from any other condition in addition to excess iron, it will be necessary to consult a physician, who will diagnose a specific treatment for the patient’s situation.
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