The search for genetic modifiers of disease severity in the β-hemoglobinopathies.

Abstract excerpt

Sickle cell disease (SCD) and β-thalassemia, two monogenic diseases caused by mutations in the β-globin gene, affect millions of individuals worldwide. These hemoglobin disorders are characterized by extreme clinical heterogeneity, complicating patient management and treatment. A better understanding of this patient-to-patient clinical variability would dramatically improve care and might also guide the...

Topics

• Anemia, Sickle Cell
• Fetal Hemoglobin
• Genes, Modifier
• Genetic Predisposition to Disease
• Genome-Wide Association Study
• Hemoglobinopathies
• Humans
• Mutation
• beta-Globins
• beta-Thalassemia