Autism spectrum disorder and beta thalassemia minor: A genetic link?

Abstract

Autism spectrum disorder (ASD) is characterized by persistent deficits in social interaction and communication, and by restricted and repetitive patterns of behaviors and interests. Beta-thalassemia minor (BTM) is a common genetic blood disorder in Turkey. BTM is a single-gene disease that causes a decrease in beta globin production. We describe a girl aged 4 years and 4 months referred to our department due to speech delay, inability to establish social communication and overactivity. She was diagnosed with ASD according to DSM-5 criteria and Beta-thalassemia minor. Although there have been case reports of BTM with the some psychiatric conditions, to the best of our knowledge there are none concerning comorbid ASD and BTM. The aim of this report is to describe a possible genetic association between ASD and BTM since they have a common link associated with chromosome 11.