BETA-GLOBIN HAPLOTYPES FROM BLOOD SPOTS FOR FOLLOW-UP OF NEWBORN HEMOGLOBINOPATHY SCREENING

The inheritance of sickle-cell anemia upon the background of the major beta-globin gene cluster haplotypes has been associated with differin g risks for major organ failure, and more recently with response to hy droxyurea treatment. Early identification of beta-globin haplotypes in individuals with sickle-cell anemia may be a clinically useful progno stic factor for severity of disease expression. This report describes the use of whole-blood spots on filter papers from newborn hemoglobino pathy screening for beta-globin gene cluster haplotyping by the polyme rase chain reaction. (C) 1997 Wiley-Liss, Inc.