Hemochromatosis is a genetic disease characterized by uncontrolled absorption of iron in the intestine, which can lead to the progressive accumulation of this element in various organs of the body. This accumulation can cause serious and life-threatening complications, including arthritis, diabetes, heart failure, liver cirrhosis, and hepatocellular carcinoma.
But, despite its severity, hemochromatosis continues to be an underestimated disease and in many cases is diagnosed late.
In Spain, every thousand people are predisposed to this disease.
Strictly speaking, the term hemochromatosis is reserved for a genetic condition characterized by increased levels of ferritin (a protein that stores iron in tissues) and saturation of transferrin (a protein that transports iron in the blood), as well as such as iron overload in the liver, without involvement of the spleen .
Hemochromatosis affects populations of European descent and is very common in the north of this continent. In Ireland, one in every 200 people has a genetic defect that predisposes them to the disease, while in Spain one in every 1,000 has it. However, many cases go undiagnosed due to a lack of specific symptoms in the early stages of the disease.
In search of mutations
The diagnosis of hemochromatosis is made using biochemical and genetic tests. The latter detect mutations in at least five genes associated with iron metabolism. The most common of these occurs in the HFE gene and is called Cys282Tyr when homozygous.
Detection of mutations allows for early diagnosis, which is critical for preventing iron accumulation in the body and associated complications. Genetic testing is especially recommended for individuals with a family history of hemochromatosis or those with suspicious symptoms: repeatedly elevated ferritin levels accompanied by high levels of transferrin saturation, with or without the presence of iron overload in the liver.
How is hemochromatosis treated?
The main method of treatment is the so-called therapeutic phlebotomy (bloodletting), which involves periodic drawing of blood to reduce iron levels in the body. Each unit removed removes approximately 250 mg of iron.
The goal is to maintain serum ferritin (the percentage of ferritin in the blood) between 100 and 50 ng/mL. During the initial stages of treatment, phlebotomies may be required every week, but once iron levels have stabilized, they are performed less frequently, usually every two to three months.
Too much blood wasted
One of the biggest challenges for patients with hemochromatosis is the legal restrictions.
In Spain, for example, anyone can be a donor if they meet certain requirements, such as not having serious heart disease, infectious, autoimmune or chronic kidney disease, not using intravenous drugs and not engaging in risky behavior associated with the transmission of infectious diseases. However, the Blood Donation Act prohibits any person who meets these requirements from donating blood more than four (men) or three (women) times a year, regardless of his or her health status. This includes patients with haemochromatosis who, due to the need for frequent phlebotomies, donate blood more often: those who do so every week can total up to 52 donations per year.
This blood will not be used in excess of the doses permitted by law. We throw more than 20 liters down the drain per hemochromatosis patient!
This restriction results in significant losses that could be used to save lives. Instead of allowing its use, a phlebotomy is performed and the blood is thrown away. This situation not only represents a waste of valuable resources, but also discriminates against patients who express a willingness to use their blood for the benefit of others unless there are medical restrictions.
Legislative changes needed
It is vital that authorities review and change laws to allow people with haemochromatosis to donate blood more often. This modification will not only help meet the needs of these patients, but will also increase the amount of blood available for transfusion.
Since the blood of people with hemochromatosis (and without a reason excluding blood donation) is completely safe for use, there is no medical justification for the current restriction. And lives could have been saved.