title: Genetic association studies in β-hemoglobinopathies.
abstract: Characterization of the molecular basis of the β-thalassemias and sickle cell disease (SCD) clearly showed that individuals with the same β-globin genotypes can have extremely diverse clinical severity. Two key modifiers, an innate ability to produce fetal hemoglobin and coinheritance of α-thalassemia, both derived from family and population studies, affect the pathophysiology of both disorders at the primary level. In the past 2 decades, scientific research had applied genetic approaches to identify additional genetic modifiers. The review summarizes recent genetic studies and key genetic modifiers identified and traces the story of fetal hemoglobin genetics, which has led to an emerging network of globin gene regulation. The discoveries have provided insights on new targets for therapeutic intervention and raise possibilities of developing fetal hemoglobin predictive diagnostics for predicting disease severity in the newborn and for integration into prenatal diagnosis to better inform genetic counseling.
authors: 1Department of Haematological Medicine, King's College Hospital National Health Service Foundation Trust, King's College London School of Medicine, London, United Kingdom.
authors: Swee Lay
authors: SL
authors: Thein
mesh_terms: D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D005319:Fetal Hemoglobin / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy
chemical_list: D005319:Fetal Hemoglobin