Sickle cell anemia: major advances in screening and treatments

Drépanocytosis represents the most common form of rare genetic disease in France. For example, According to the HAS (High Authority for Health). Nevertheless, It affects around 600 newborns each yeara figure that could increase slightly with the generalization of screening.

The disease affects hemoglobinessential protein of red blood cells. Meanwhile, In case of sickle cell anemia. Meanwhile. In addition, a genetic mutation (called hemoglobin S) modifies the shape of the red blood cells, which take on an increasing look and become rigid, in particular in the event of lack of oxygen or hydration. Nevertheless, Result: they break more easily (causing anemia) or blocking in small blood vessels, triggering acute pain called vaso-occlusive crises.

“It is a disease that can have very variable forms. In addition, but whose mechanism is always the same: red blood cells that sickle cell anemia: major advances new stiffen and disrupt blood circulation “Explains Dr. Furthermore, Camille Runel-Belliard, pediatrician sickle cell anemia: major advances at the Bordeaux University Hospital and specialist in sickle cell anemia. For example, “It is also the most common rare disease in France. Similarly, And yet, it remains unknown to the general public, unlike cystic fibrosis or hemophilia. Consequently. For example, »»

Hereditary transmission of the disease – Sickle cell anemia: major advances – Sickle cell anemia: major advances new

The disease is transmitted when Both parents carry an abnormality of the hemoglobin gene. In addition. Similarly, In order for the child to develop the disease, he must inherit the genetic mutation of each of his parents. Moreover, This mutation is more frequent in certain regions of the world where malaria used to prevail -as in India. However. in the Middle East, in the Antilles or around the Mediterranean basin-and where it is still present, especially in Africa.

“Today, the patient’s profile is increasingly sickle cell anemia: major advances new diversified. For example, I have a sickle cell patient of Albanian origin, with two Caucasian parents, ”underlines Dr Camille Runel-Belliard. Consequently. The brewing of populations sickle cell anemia: major advances now makes you decade the targeted screening depending on the origin. However, “We can no longer base ourselves only on ethnic criteria. Consequently, Atypical profiles show us that any child can potentially be concerned. »

Neonatal screening becomes universal – Sickle cell anemia: major advances – Sickle cell anemia: major advances new

This is one of the great advances in recent years. Since November 1. 2024, All newborns in France benefit from sickle cell testingvia the Guthrie test carried out around the third day of life. “Before, screening was reserved for children considered at risk, which was no longer sufficient. We were missing some cases. »»

Since the implementation of neonatal screening (in the 2000s), the disease has now been detected earlier, which allows early management. This test also identifies sickle cell anemia: major advances new the “healthy” carriers of the gene without being sick. Useful information for their future life, especially when you found a family.

Screening also aims to prevent early complications, including the risk of serious infections. Indeed, “the spleen sickle cell anemia: major advances works badly in these children, which makes them vulnerable to certain bacteria. »Preventive antibiotic treatment is then set up, supplemented by a reinforced vaccine calendar. “By informing families very early. you can set up suitable surveillance. avoid errors in the course and better anticipate the infectious risks or the first crises. »»

Management from the first months

The first symptoms generally only appear after six months. thanks to the presence of fetal hemoglobin, protective and still present after birth. Then, the risks increase: intense bone pain, chronic anemia, severe infections. To prevent crises, Basic treatment is often offered: hydroxyurée.

This medication. taken orally in the form of tall. dispersible tablets, stimulates the sickle cell anemia: major advances new production of fetal hemoglobin, which protects the red blood cells from the deformation. “It was prescribed earlier than before, from two years, if the child has been hospitalized or has signs of gravity. That significantly reduces hospitalizations “Explains the specialist.

Treatment sickle cell anemia: major advances also acts on inflammation and Improves the overall quality of life of children. This allows children to go more regularly to school, while maintaining suitable medical follow -up.

Hopes linked to bone marrow transplant and gene therapy

So far, hydroxyurée limited symptoms without curing the disease. But today, Bone marrow transplant offers real hope for healing. “If the child has a perfectly compatible brother or sister, we can offer a transplant. The success rate is high, with only 3 % risk of serious complications. »»

This curative solution is possible from childhood. provided you have a compatible donor and have an evolving disease under hydroxyurée in particular. “The sickle cell anemia: major advances new earlier the transplant is made. the better the prognosis, in particular to limit long -term consequences on the kidneys or bones. In the most severe cases. we can also consider a transplant from a semi-compatible donor (a parent for example). although the risk is greater sickle cell anemia: major advances (around 15 %).

As for gene therapy. it arouses many hopesbut remains very expensive for the moment (between 1 and 2 million euros) and requires prior chemotherapy. “We cannot yet speak of total healing. but we hope to stabilize the disease thanks to a high production of fetal hemoglobin. »»

Evolutionary perspectives

Research on sickle cell anemia is progressing. even if it is delayed compared to other rare diseases such as cystic fibrosis. Several therapeutic trials have been launched, some abandoned for lack of sufficient results. Others are underway, carried by better knowledge of the mechanisms of the disease.

The sickle cell anemia is sickle cell anemia: major advances new now the subject of international research work. with the hope of offering eventually more targeted oral treatments or innovative biotherapies. In the meantime. the stake is also societal: to make the disease better known. to fight against diagnostic delays and support families over time.

For patientsthe prospects are encouraging. Generalized screening. sickle cell anemia: major advances extension of transplants and the earlier use to hydroxyurée clearly improve quality of life. “We treat better, we hospitalize less, and we open new doors to healing. »»