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

Özet

Autism spectrum disorder (ASD) is characterized by persistent deficits in socialinteraction and communication, and by restricted and repetitive patterns ofbehaviors and interests. Beta-thalassemia minor (BTM) is a common geneticblood disorder in Turkey. BTM is a single-gene disease that causes a decreasein beta globin production. We describe a girl aged 4 years and 4 monthsreferred to our department due to speech delay, inability to establish socialcommunication and overactivity. She was diagnosed with ASD according toDSM-5 criteria and Beta-thalassemia minor. Although there have been casereports of BTM with the some psychiatric conditions, to the best of ourknowledge there are none concerning comorbid ASD and BTM. The aim ofthis report is to describe a possible genetic association between ASD andBTM since they have a common link associated with chromosome 11.