2023-06-19 13:59:41
World Sickle Cell Day, celebrated this Monday, June 19, is an opportunity to highlight this widespread genetic disease that is little known to the general public. Sometimes described as the “least rare of rare diseases”, it affects more than 50 million people worldwide, including 300,000 children.
Sickle cell disease alters hemoglobin (a protein essential for respiratory function) and causes the obstruction of small blood vessels, leading to several complications.
The disease is manifested by three main symptoms: anemia (abnormal drop in hemoglobin levels in the blood), painful attacks that can affect different organs and reduced resistance to certain infections. However, it is possible to be a carrier of the disease without having symptoms.
In France, more than 500 babies are born with the disease each year
In France, a European country where sickle cell disease is the most widespread, the disease affects between 19,800 and 32,400 people, according to data from Medicare. In mainland France, 85% of affected patients come from the West Indies, Guyana, Reunion or sub-Saharan Africa, and 15% come from North Africa, Sicily, Greece and the Middle East.
Each year, more than 500 babies are born with the disease, i.e. one newborn in 1,300. Children are asymptomatic at birth but the first complications occur from 3 months: painful vaso-occlusive crises, acute chest syndromes, hemolysis , acute anemia… Several causes can involve the vital or cerebral prognosis.
It is also the leading cause of stroke in children. “Without early treatment, the infant mortality rate in children with sickle cell disease is very high,” underlines in an opinion the High Authority for Health in November 2022.
Incurable disease
A generalization of screening for sickle cell disease in all newborns (alongside six other additional diseases) was thus decided. Announced from January 2023, expanded screening does not yet apply in the field, deplore some associations, awaiting a ministerial text.
The disease remains incurable for the moment, even if it is possible to relieve the pain in times of crisis. Despite treatments that have increased the life expectancy of those affected, it remains much lower than that of the general population. On average, it is now around 40 years (it was less than 20 years in the 1980s). The only hope for a cure at present: bone marrow transplantation. Heavy and costly, it concerns a minority of patients, suffering from the most severe forms.
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