Beta-globin haplotypes from blood spots for follow-up of newborn hemoglobinopathy screening

Abstract

The inheritance of sickle-cell anemia upon the background of the major β-globin gene cluster haplotypes has been associated with differing risks for major organ failure, and more recently with response to hydroxyurea treatment. Early identification of β-globin haplotypes in individuals with sickle-cell anemia may be a clinically useful prognostic factor for severity of disease expression. This report describes the use of whole-blood spots on filter papers from newborn hemoglobinopathy screening for β-globin gene cluster haplotyping by the polymerase chain reaction.