Co-existence of Phenylketonuria (PKU) and beta-Thalassemia Major in a 16 Years Old Girl: A Case Report

Abstract

While thalassemia major (TM) used to be a prevalent genetic disease in the past, however, Phenylketonuria (PKU) is quite rare in spite of consanquiness marriage rate of about 40% in the region. Preventive efforts for TM started >20 years ago but neonatal screening for PKU started since 2007. This is the first report of co-existence of thalassemia and PKU in Middle East and in consideration of the prevalence of each genes, this chance association is a very unusual event. We report a case of having PKU and TM.