Hemoglobin S&C mutation (HbS/C)

Sickle Cell Disease is associated with significant morbidity and mortality in young children. Hemoglobinopathies are the most common monogenic pathology worldwide. The number of subjects who are heterozygous carriers is estimated at approximately 7% of the global population. Therefore, each year between 300,000 and 400,000 children are born worldwide with severe hemoglobinopathy.

The onset of major neonatal sickle cell disease is as early as three months of age. The progression of the disease is pronounced by acute complications of three types: vaso-occlusive crises causing intense and sudden pain in certain parts of the body (commonly hands, feet, hips, abdomen), hemolysis and infections.

β-thalassemia major is characterized by chronic hemolytic anemia. Hepatosplenomegaly and skeletal deformities are manifestations of medullary hyperplasia. These patients are also prone to infections and spontaneous fractures.

The benefits of early screening have been clearly demonstrated only for the following phenotypes: Hb SS, Hb SC, Hb SDPunjab, Hb Sβ thalassemia (β+, β0, δβ, Lepore), Hb SOArab and Hb S/HPFH. Early identification through screening allows for timely medical interventions, such as blood transfusions and hydroxyurea therapy, which can significantly reduce the risk of complications and improve overall survival and quality of life. Implementing widespread newborn screening programs for these hemoglobinopathies can thus play a crucial role in reducing the burden of disease globally, especially in regions where these conditions are more prevalent.