Haemochromatosis is a genetic disorder characterised by increased intestinal absorption of iron, which gradually accumulates in organs such as the liver, heart, pancreas as well as in the joints. “It is one of the most common hereditary diseases among people of European descent and can lead to serious complications such as liver cirrhosis, diabetes, heart failure and hormonal disorders,” explained Sánchez.

In addition, studies led by the researcher have shown that iron accumulation also promotes cellular ageing and fibrosis, highlighting that haemochromatosis “goes far beyond excess iron in the blood, as it involves deep cellular changes that may have a significant clinical impact even before the classic symptoms appear.”

Lack of specialised professionals

“If the disease is detected before irreversible organ damage occurs, treatment can prevent complications”, Sánchez pointed out.  However, there is currently a high level of “underdiagnosis” due to the non-specific nature of its symptoms – such as fatigue, joint pain, liver dysfunction or diabetes. The researcher also noted that "there are not enough professionals specifically trained in iron metabolism, whether in primary care or in specialties such as hepatology, haematology or internal medicine".

Haemochromatosis is one of the most common hereditary conditions in populations of European ancestry. It typically appears between the ages of 30 and 50, especially in men.  The condition can be detected through blood tests that measure iron, ferritin and transferrin saturation levels, alongside other examinations. 

World Haemochromatosis Week is held from 1 to 7 June, aiming to raise public awareness about the condition, educate healthcare professionals, and promote early diagnosis. It is also an opportunity to give patients a platform and to advocate for increased support for biomedical research into iron-related diseases.