This is a fatal anemia that is more painful than childbirth.

Sickle cell anemia: This is a rare, fatal anemia that causes more pain than childbirthfreepick

In this Wednesday, June 19like every year since 2009, World Sickle Cell Daybetter known as disease cells sickle cell.

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This is a rare disease, little known to both the population and doctors themselves. Estimated It affects 20 million people worldwide. Every year, 300,000 children are born with this pathology.. In Spain the data is below: In 2022, approximately 1,200 people were affected..

What is sickle cell anemia?

To find out everything about this condition first-hand, this newspaper is collaborating with doctor Salvador Payanhematologist at the Virgen del Rocío University Hospital (Seville) and Rosalia Segurarepresentative of the Spanish Association of Sickle Cell Anemia (ASAFE).

Sickle cell anemia belongs to the group hereditary blood diseases affecting hemoglobina protein that carries oxygen throughout the body.

Together with these cells, hemoglobin loses its original shape.

Red blood cells are typically disc-shaped and flexible enough to move easily through blood vessels. As a result of this change, the red blood cells take on a crescent shape due to a genetic mutation and have difficulty bending and moving. This anomaly causes blockage of blood flow to the rest of the body.

Where did this disease come from? What causes this?

“Disease is genetic origin. We have two copies of every gene: one from our mother and one from our father. The disease is caused by a gene mutation beta globinwhich is part of hemoglobin,” explains Dr. Payan.

For the disease to occur, both copies of the beta globin gene must be changed

. When only one altered copy is present, the person is a carrier but is healthy and known as sickle cell trait.

If hemoglobin has such a change (then known as hemoglobin S, named “sickle” in English, which means sickle, due to the shape these cells take on), when it reaches the tissues and releases oxygen, it acquires a property that normal hemoglobin does not have, called hemoglobin A. This property consists of the formation of hemoglobin fibers inside red blood cells.which prevents proper blood flow between blood vessels.

With this change in red blood cells, which are the triggers of the disease, the following occurs:

• On the one side, destruction of these red blood cells in the bloodstream, which is called hemolysis..

• For others, Vaso-occlusion occurs, which means that small blood vessels become blocked and blood stops reaching these areas after occlusion.which causes chronic pain and damage.

Chronic pain in various organs is the heaviest burden of this disease.

The most typical consequences caused by the above are anemia and pain criseswith very severe discomfort in organs such as:

• Brain
• Lungs
• Kidneys
• Liver
• Heart
• and in the bones

Pain crises, constant anxiety for patients

“Vaso-occlusion produces the well-known pain crisis. These are episodes that may be caused by some of the following:

• Dehydration
• Menstruation
• Impact of altitude
• Very intense exercise

Although sometimes it occurs suddenly, without any obvious trigger,” Payan emphasizes.

It is usually characterized by very severe pain in:

• Back
• Knee
• Femur
• tibia
• Brachial bone

These crises They are very limited because they can appear at any time..

The pain is unbearable. Women say it causes them more pain than childbirth. They have to go to the emergency room and be hospitalized for several days with morphine.

Salvador Payan. Hematologist at the Virgen del Rocío University Hospital

It is important to lead a healthy lifestyle to try to prevent a pain crisis as much as possible, but there is no preventative treatment.

Early diagnosis is not a problem

Unlike other rare diseases, the diagnosis is made in the first days of life, since in all autonomous communities it is part of the heel test. By extracting and testing a few drops of blood from a newborn’s heel, about thirty pathologies, such as sickle cell anemia, can be detected. And how can it be diagnosed before clinical manifestations appear? There is a very effective treatment measure known as penicillin prophylactic.

One of the disadvantages of this disease is life expectancy: on average, patients with sickle cell disease live 48 years. The high mortality associated with this disease is due to chronic damage to any organ caused by these cells.

Why does this affect people of African descent?

“People who are carriers of this disease have partial protection from malaria and that is why the vast majority of patients are black, because they come from an area where this infection is endemic,” explains the doctor.

Those affected by the disease are usually of African descent due to its association with malaria.

And this is the main reason why bone marrow transplantation is very difficult. Since they usually belong to different nationalities, finding a suitable donor is very difficult.

Living a normal life with this disease is a difficult task, but it can be done.

Rosalia Segura, a spokeswoman for the Spanish Sickle Cell Association, told this portal that “you can try to lead a normal life, although this is very limiting for you. It depends on each personhow it affects everyone. But you need to be careful with some factors such as hydration, temperature…”

In addition, this affects Psychological support as the basis for patient treatment.

• “This is very important because you are dealing with constant uncertainty. Maybe you’re organizing a trip and the day you get on the plane you have a crisis and can’t go.”

And on days like these, Segura emphasizes the importance of raising awareness of the disease and joining forces to find a possible cure. “There is hope. It’s a long way but it can be done. I’m 42 years old and I have better and worse days, but I’m here,” Rosalia’s final message of hope about a disease that we must continue to talk about, and not just on her World Day.