Alpha-thalassemia mental retardation syndrome: A case report of two affected siblings

Alpha-thalassemia mental retardation syndrome is an x-linked mental retardation (mr) syndrome characterized by a recognizable facial appearance,infantile hypotonia and cryptorchidism. although the presence of alpha-thalassemia facilitates the diagnosis,its absence does not exclude the diagnosis of this rare syndrome. we describe two siblings who presented with facial dysmorphism,mr and a four-generation pedigree that revealed an x-linked recessive inheritance pattern. their red blood cell indices were within the normal range; however,hemoglobin h inclusions were detected following cresyl blue staining on their peripheral blood film. mutational analysis revealed a point mutation c7156t that is predicted to have caused a premature termination within the alpha-thalassemia mr syndrome gene in both siblings. confirmation of this mutation has facilitated the process of genetic counseling,carrier testing and prenatal diagnosis amongst female relatives in this family. © 2013 - ios press and the authors. all rights reserved.