A Novel Filtering Tool for Detecting Sickle Cell Disease in the Pediatric Population

Human migration has reached an unprecedented level. Progressive globalization has integrated people and facilitated the introduction of deleterious genes into populations in which they were originally absent, thus impacting negatively on public health. A great challenge encountered by clinicians in the era of "migration hematology" lies in the hemoglobinopathies, a group of conditions representing the commonest, life-threatening, monogenic disorders globally. Of the ±400 000 newborn children affected annually, ~65% have sickle cell disease (SCD), a disorder that has spread far beyond its origins because of slave trade and contemporary population movements. More than 70% of all global SCD cases are due to autosomal recessive homozygous inheritance of a βS-mutation (missense Glu6Val) in the HBB gene, creating sickle hemoglobin (HbS), a structural variant of adult hemoglobin (HbA) and causing the most severe form of SCD, sickle cell anemia (SCA). Other forms result from inheritance of HbS in combination with different mutations, most commonly a second structural β-globin variant, βC (S/C) or one of many that lead to decreased β-globin synthesis (S/β-thalassemia). Clinical consequences are due to polymerization of deoxygenated HbS and its deleterious effects on erythrocytes. It is a debilitating syndrome characterized by chronic hemolysis and vaso-occlusive crises, manifesting as acute painful episodes, organ infarction and eventual multi-organ dam...
Source: Blood - Category: Hematology Authors: Tags: 901. Health Services Research-Non-Malignant Conditions: Poster I Source Type: research