Razi Journal of Medical Sciences

Background: Beta thalassemia is one of the most common hereditary disorders worldwide. In Iran, it is frequently reported from northern and southern provinces. In order to prevent child birth affected by this complication, prenatal screening and diagnosis is carried out nationwide. However in some instances, this program is unable to identify rare mutations leading to thalassemia.

Case presentation: A married couple, who took part in prenatal screening and diagnosis, gave birth to a child who is affected by thalassemia major. After several molecular examination, a rare mutation [+22 5UTR (G>A)] in compound heterozygote state with a common mutation [codon 8 (-AA)] was found. 

Conclusions: This case study suggests that more advanced molecular evaluations must be integrated in prenatal screening programs to identify rare mutations and antenatal diagnosis of thalassemia cases.