On the occasion of World Haemochromatosis Week, Dr Mayka Sánchez, coordinator of Genetics for the Bachelor’s Degree in Biomedical Sciences and principal investigator of the Iron Metabolism: Regulation and Diseases Research Group at UIC Barcelona, highlights the progress achieved in the diagnosis of this hereditary disease and the importance of identifying it before serious complications arise.

Haemochromatosis is a genetic disorder characterised by excessive iron absorption, which leads to the progressive accumulation of this mineral in organs such as the liver, heart, pancreas and joints. If not detected early, it may result in complications such as liver cirrhosis, diabetes or heart problems.

According to Dr Sánchez, improvements in genetic sequencing techniques have made it possible to significantly advance the identification of patients at risk of developing the disease. However, she argues that the main challenge continues to be early diagnosis, as the initial symptoms are usually non-specific and can easily be attributed to other conditions.

The key role of primary care

For the researcher, early detection hinges on reinforcing the role of primary care and improving coordination between specialties. Symptoms such as fatigue and joint pain may be early indicators of the disease, and Dr Sánchez, who also serves as vice president of the European Federation of Associations of Patients with Haemochromatosis (EFAPH), stresses that current treatments are highly effective when the condition is detected early. 

At UIC Barcelona, the research group led by Dr Sánchez studies the mechanisms involved in iron metabolism and the alterations associated with its regulation, with the aim of better understanding diseases such as haemochromatosis and promoting strategies for earlier diagnosis and more effective treatment.