19/06/2025
Sickle cell anemia is a silent but devastating disease. Genetic, rare and often misunderstood, it affects the shape of red blood cells, deforming them into sickles and causing painful crises, vascular obstructions and irreversible damage to vital organs. Coinciding with World Sickle Cell Day (June 19), we talked to Rosalía Segura, secretary of the Spanish Sickle Cell Disease Association (ASAFE), and patient, about the day-to-day life with this disease, the importance of early diagnosis and the power of associations to avoid feeling alone.
Pathology: pain and uncertainty
"I was born in Guinea. From a very young age I started having intense bone pains and very severe anemias, but no one knew why," Rosalia recalls. "One day, I just stopped walking. It was as if my body shut down without warning." For years, her life was a to-and-fro in hospitals until a doctor, almost by intuition, suspected that it might be a hematological disease.
"It was a matter of luck. My parents brought me to Spain, I was tested and, when I was eight years old, they confirmed the diagnosis: sickle cell anemia."
This disease, also known as sickle cell disease, occurs when red blood cells - normally round and flexible - take on a sickle shape. This shape prevents them from circulating properly through the blood vessels, causing blockages, lack of oxygen in tissues and organs, and pain that Rosalía describes as "bones breaking very slowly, without rest".
One of the biggest challenges, he explains, is not only physical, but social. "It's an invisible disease. They see you well and think you're fine. I've been told, 'You don't look like you're wearing a prosthesis,' 'If you walk fine, what's wrong with you?' But the reality is that you can be completely exhausted, unable to make a bed, and on the outside you can't tell."
Crises can appear at any time: due to dehydration, a sudden change in temperature, a strong emotion, stress. "You can't predict if you're going to be okay that day or if you'll end up in the emergency room. And that affects everything: work, relationships, your mental health."
Rosalía has suffered bone necrosis, has lost the head of her femur and has undergone multiple operations. "And all this without me knowing that something so serious was happening to me. The after-effects develop in silence".
Diagnosis: before and after
Until recently, the disease was an enigma even for doctors. "I have had to explain in the emergency room what is wrong with me and why a paracetamol doesn't work for me. I had to show them my medical history," he says.
Today, thanks to neonatal screening, many cases are detected in newborns. "That has radically changed the diagnosis. But there are still young people who arrive with undiagnosed pain, and it can take years before someone finds the key."
Rosalía insists on the need for specific protocols. "Doctors don't always know what to do. For example, if they give me an unnecessary transfusion, they can cause iron overload, which is another problem we have. Our body already destroys too many red blood cells and that generates excess iron. We have to know the disease well in order to treat it without making it worse".
ASAFE: a network so as not to feel alone
In 2021, a group of patients decided it was time to join forces. Thus ASAFE was born, an association that in just three years has grown to more than 150 members throughout Spain. "We are very spread out, from Madrid to the Canary Islands, La Coruña or Zaragoza. Thanks to the association, many patients have met other people with the same disease for the first time".
One of the biggest accomplishments has been the creation of a summer camp for children with sickle cell disease. "This is the second year we've organized it. It is aimed at children and adolescents between the ages of 10 and 18, and is designed with extreme care: there are doctors, protocols, accompaniment, personalized collection... The idea arose after seeing how in the United States they were doing something similar."
The impact, Rosalia says, has been emotionally overwhelming. "Seeing these children, who often feel isolated, share with others like them, was precious. Many are repeating this year. For them it's a place where they don't have to explain anything, where everyone understands what they feel."
And what life is like now
Rosalia is the mother of two daughters. "Before I got pregnant, I had tests with my partner to make sure I was not a carrier. The pregnancies were risky, with frequent transfusions and constant check-ups, but I did it because it was my dream."
She recalls her first pregnancy with emotion: "I had an inexplicable energy. Maybe it was the adrenaline, but I was strong, positive, determined. It was a risk, yes, but also a victory".
Sickle cell anemia conditions day-to-day life. "There are things as basic as going to the beach or to the park with your children that become medical decisions. The sun, cold water, exertion... anything can trigger a crisis." And that, she says, comes at a high psychological price.
"Children, especially, don't understand why they can't do the same as their peers. How do you explain to a six-year-old that she can't run because she's going to get dehydrated and her whole body will hurt? It's frustrating, for them and for the parents."
"We want to live, not survive."
At present, there is no cure for the disease. Life expectancy has increased in recent years, thanks to current treatments, care and knowledge. "We don't like to talk about life expectancy. But we have to be realistic: this disease, if not controlled, is fatal."
That's why ASAFE also fights for disability recognition. "You can't wait until someone loses an organ or stops walking to recognize that they need social protection. This disease can tear you apart inside without anyone seeing it."
More research, more empathy
Rosalia is not looking for sympathy, but for understanding. "We don't want to be just another number in the statistics. We want to be listened to, to be believed, to be taken into account. That doctors know us, that society understands that a smiling face can hide a broken body."
And it sends a clear message on this World Sickle Cell Day: "We don't want to survive by crawling. We want to live. With dignity, with support, with a future."
