Executive summary All over the world, people with sickle cell disease (an inherited
condition) have premature deaths and preventable severe chronic complications, which …

Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation
in the β-globin gene resulting in the substitution of the amino acid valine for glutamic acid in …

Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr.
Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for …

Sickle cell disease (SCD) is a monogenic blood disease caused by a point mutation in the
gene coding for β-globin. The abnormal hemoglobin [sickle hemoglobin (HbS)] polymerizes …

Sickle cell disease (SCD) is an umbrella term for a group of life‐long debilitating autosomal
recessive disorders that are caused by a single‐point mutation (Glu→ Val) that results in …

Several controlled studies have evidenced good efficacy and short‐term and mid‐term
safety profiles for hydroxyurea (HU), which has become the cornerstone for prevention of …

Sickle cell disease (SCD) is an inherited monogenic disorder with high prevalence
throughout sub-Saharan Africa, the Mediterranean basin, the Middle East, and India …

Sickle cell disease is a hereditary multiorgan disease that is considered rare in the EU. In
2017, the Rare Diseases Plan was implemented within the EU and 24 European Reference …

Sickle cell anemia (SCA) is a severe genetic disorder characterized by the production of
abnormal hemoglobin S, leading to the formation of sickle-shaped red blood cells that cause …

During the last few years, next-generation sequencing (NGS) has undergone a rapid
transition from a research setting to a clinical application, becoming the method of choice in …