Tehran University of Medical Sciences International Journal of Hematology-Oncology and Stem Cell Research 2008-2207 6 3 2012 09 15 42 45 Hossein Karami Thalassemia Research Center, Mazandaran University of Medical Sciences, Mazandaran, Iran Mehrnoush Kosaryan Thalassemia Research Center, Mazandaran University of Medical Sciences, Mazandaran, Iran Ail Aliasgharian Thalassemia Research Center, Mazandaran University of Medical Sciences, Mazandaran, Iran Ali Abbaskhanian Thalassemia Research Center, Mazandaran University of Medical Sciences, Mazandaran, Iran Rayka Sharifian Thalassemia Research Center, Mazandaran University of Medical Sciences, Mazandaran, Iran Mehrdad Taghipour Thalassemia Research Center, Mazandaran University of Medical Sciences, Mazandaran, Iran 2015 10 01 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. https://ijhoscr.tums.ac.ir/index.php/ijhoscr/article/view/340 https://ijhoscr.tums.ac.ir/index.php/ijhoscr/article/download/340/572