1791 – A case of psychosis in a patient affected by beta thalassemia major: a genetic link?

A 35-year-old man affected by betathalessemia major was treated at the age of 10 years old by allogeneic bone marrow transplant and then he had a one-year treatment with cyclosporine. In March 2012 he was admitted to our psychiatric department because of delusional thoughts, hallucinations, anxiety and behavioral abnormalities. The insight was absent. His parents reported a progressive social retirement from the age of 16 years old and hallucinations even in the last few years. Furthermore the familial history was positive for psychotic symptoms (brother). During the hospitalization, an antipsychotic therapy based on paliperidone was started. After two weeks at the dosage of 9 mg per day his psychopatological condition slowly improved. He was discharged after one month: delusions, hallucinations and behavioral abnormalities disappeared, anxiety decreased. During the following months the patient was evaluated: no relapse of positive symptoms was observed but his personal, social and working functioning remained significantly impaired. A diagnosis of schizophrenia has not been formulated yet because of the temporalcriterion. Cases where schizophrenia and betathalassemia occurred simultaneously were reported in literature, mostly when psychotic symptoms affected more than one family member. The association maybe suggests a genetic link between these two disorders. Previous studies showed that genetic abnormalities in the short arm of chromosome 11, responsible of betathalassemia, are also known as crucial regions for the genetic susceptibility of schizophrenia.Further studies are needed to better clarify this genetic association in order to verify which abnormalities of chromosome 11 are more associated with the onset of schizophrenia.