Molecular diagnosis of hemoglobinopathies and other red blood cell disorders

This article provides an overview of the techniques currently available for the molecular diagnosis of hemoglobinopathies and other inherited erythrocyte disorders. Advances in both clinical practice and molecular biology have permitted rapid genetic diagnosis of many of these disorders. In turn, rapid diagnosis has led to improvements in prenatal diagnosis and in early detection of at-risk individuals, permitting appropriate prenatal counseling to at-risk couples, allowing for appropriate patient education, and improving clinical outcome.