Dr Mayka Sánchez is a geneticist and head of the Research Group in Hereditary Haematology and Iron Metabolism (HELAINE) at UIC Barcelona. The group focuses on different lines of research that look into gene therapy, the molecular and cellular biology of rare diseases in haematology and paediatric haematology, bioinformatics, and telemedicine equipment for rare hereditary diseases related to iron metabolism. As part of World Haemochromatosis Awareness Week, Sánchez explains what the disease is, how it can be treated, and the role played by research.
What is haemochromatosis and why is World Haemochromatosis Awareness Week important?
Haemochromatosis is a genetic condition in which excessive levels of iron accumulate in the body. People who suffer from haemochromatosis absorb more iron than necessary. Iron can then build up in vital organs such as the liver, heart and pancreas, leading to serious complications such as cancer, diabetes and hormonal problems if the condition is not treated in time. Initiatives such as World Haemochromatosis Awareness Week are therefore crucial to raise awareness of this rare disease and encourage early diagnosis and appropriate treatment. In Spain, 1 in every 1000 people has a genotype (homozygous C282Y) that means they are predisposed to developing this disease.
What is the most common genetic cause of haemochromatosis?
The most common genetic variant related to haemochromatosis is the C282Y mutation, a cysteine-to-tyrosine substitution at amino acid 282 in the HFE gene. However, other less common genetic variants may also cause a predisposition to developing this condition, and researchers are working to better identify and characterise them.
What is the recommended treatment for patients with haemochromatosis?
The main treatment for haemochromatosis is frequent phlebotomies, a procedure to draw blood that helps reduce iron levels in the body. The treatment is simple and inexpensive, but requires constant monitoring. Unlike healthy people, who can only donate blood up to four times a year, patients with haemochromatosis need to have their blood drawn weekly until their iron levels stabilise.
What role does research play, and what progress is being made at UIC Barcelona in relation to this disease?
Through the research group I lead at UIC Barcelona, we provide high levels of support in the genetic diagnosis of less common variants of the disease, which are known as non-HFE haemochromatosis. The first genetic analyses are carried out in companies we have collaboration agreements with, such as Bloodgenetics, with the goal of improving genetic diagnostic tools. When results are found with variants of uncertain significance, we carry out functional studies at UIC Barcelona to see if the variants are pathogenic or not.
Our research group has also conducted investigations into the discovery and functional characterisation of new diseases related to iron metabolism, as well as research into developing telemedicine equipment to improve patient management.
How important is education and awareness for diseases such as haemochromatosis?
In the case of rare diseases like this, education and social awareness are essential. The varied nature of haemochromatosis symptoms means that it often goes unnoticed by primary care professionals. Greater awareness of the disease would encourage doctors to request genetic studies for elevated ferritin and transferrin saturation levels. With a positive test result, they would then be able to begin appropriate treatment as soon as possible, avoiding major complications. As haemochromatosis is a genetic disease, diagnosis has implications for family members, and could result in tests and preventive treatments for close relatives.
