La sickle cell anemia, Also called sickle cell anemia, is an inherited blood disease (more precisely hemoglobin) which is the most common genetic disease in France and Quebec.

Ile-de-France is the most affected region (excluding DOM-TOM) with around 1/700 newborns affected. In total, in France, around 10 people are believed to be suffering from sickle cell disease.

This disease mainly affects populations of Mediterranean, African and Caribbean origin. It is estimated that around 312 newborns are affected worldwide, mostly in sub-Saharan Africa.

The earlier this disease is detected, the better the care and the chances of survival of the child.

In France, a newborn screening is therefore systematically offered to newborns whose parents come from regions at risk. It is performed in all newborns in the overseas departments.

In Quebec, screening is neither systematic nor generalized: since November 2013, babies born in hospitals and birthing centers in the Montreal and Laval regions only have access to a screening test for sickle cell anemia.

The test of screening aims to highlight the presence of abnormal red blood cells characteristics of the disease, shaped like a “sickle”. Also called sickle cell, they have an elongated shape that can be seen under a microscope (by blood smear). It is also possible to perform a genetic test to detect the mutated gene.

In practice, newborn screening is based on the analysis of hemoglobin by electrophoresis, a method of analysis that can detect the presence of abnormal hemoglobin, which “moves” more slowly than normal hemoglobin when it is migrated on a special medium.

This technique can be done on dried blood, which is the case during newborn screening.

The test is therefore carried out as part of the screening for various rare diseases at the 72st hour of life in newborns, from a blood sample taken by pricking the heel. No preparation is necessary.

The result of a single test is insufficient to confirm the diagnosis. If in doubt, the parents of the affected newborn will be contacted and further tests will be performed to confirm the diagnosis and organize treatment.

In addition, the test makes it possible to detect children suffering from the disease, but also children not affected but carrying a mutated gene. These children will not be sick, but they will be at risk of passing the disease on to their own children. They are referred to as “healthy carriers” or heterozygotes for the sickle cell gene.

Parents will also be informed of the fact that there is a risk of disease for their other children, and genetic follow-up will be offered to them.