Hemochromatosis: when the problem is not a lack of iron, but an excess of it

Iron is an essential mineral for the human body because it is involved in transporting oxygen from the lungs to all parts of the body via hemoglobin in red blood cells . It is also key to muscle function, bone marrow function, and some vital organs.

That's why it's common to monitor the amount of iron in the body through blood tests . And if it's low and there's iron deficiency anemia, iron supplements are even recommended. This happens, for example, during pregnancy, when iron needs are higher.

However, iron-related pathologies are not only due to a lack or deficiency; they can also be due to the opposite. This is the case of hemochromatosis , a genetic disorder characterized by increased intestinal iron absorption, which progressively accumulates in organs such as the liver , heart, pancreas, and joints.

Although not particularly well-known among the general public, it is one of the most common hereditary diseases in people of European origin and can cause serious complications such as liver cirrhosis, diabetes, heart failure , and hormonal disorders.

European men aged 45

The profile of hemorrhagic patients is predominantly male of European origin between 40 and 50 years old . Although it is a genetic mutation present from birth, symptoms usually appear after that age. The reason is that "it is a problem of iron accumulation throughout life, and the problems arise in adulthood," according to Mayka Sánchez, genetics coordinator for the Biomedical Sciences degree program at UIC Barcelona.

It can cause serious complications such as liver cirrhosis, diabetes, heart failure or hormonal disorders.

The principal investigator of the Iron Metabolism group at the same university also believes this condition appears in women, but somewhat later, after menopause, that is, around the age of 50 or 60, "because menstruation delays iron accumulation in women." There are also "juvenile forms of hemocratosis, which are rarer and related to mutations in other genes."

What can make us suspicious?

The expert assures that " initial symptoms can be nonspecific and include fatigue, joint pain, weakness, abdominal discomfort, libido problems, liver problems, or diabetes," although the definitive suspicion has to do with the patient's genetic condition: "a family history of the disease in siblings."

Because these are such general symptoms, they are underdiagnosed more frequently than desired. According to Sánchez, this is also due to a lack of sufficient professionals "with specific training in iron metabolism, both in primary care and in specialties such as hepatology, hematology, and internal medicine."

Organic damage

Mayka Sánchez advocates for improved physician specialization to detect this disease before it causes " irreversible organ damage ." Early diagnosis and appropriate treatment can control iron accumulation and prevent serious complications.

Studies led by Sánchez herself have determined that this condition "favors cellular aging and fibrosis," demonstrating that hemochromatosis "goes far beyond excess iron in the blood, as it involves profound cellular alterations that can have a significant clinical impact even before the classic symptoms appear."