Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening

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 to be affected by this complication, prenatal screening and diagnosis are 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 examinations, a rare mutation [+22 5UTR (G>A)] in compound heterozygote state along with a common mutation [codon 8 (-AA)] was found. Conclusion. 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. 1. Introduction Beta thalassemia is one of the most prevalent autosomal received disorders in the world that has affected more than 150–200 million people from more than 60 countries around the world. About 18000 beta thalassemia major patients live in Iran, and it is estimated that the number of beta thalassemia carriers reaches to two million people, while most of them are in northern and southern provinces. Genetic counseling, identification of mutations responsible for the disease and carrier persons, and prenatal diagnosis are the best methods for the management of the disease and prevention of emergence of new cases in the community. All of these services are routinely available in Iran [1–4]. So far more than 200 different mutations on beta globin gene that lead to beta thalassemia disease have been identified. Molecular investigations on beta thalassemia patients in Iran resulted in finding 43 different beta globin gene mutations, responsible for the disease. These mutations have different frequencies in different provinces of Iran, with various ethnicities. In each province, some mutations are classified as common mutations, while others are known as rare mutations. In all provinces of Iran 13 mutations cover more than 70–90% of identified mutations among beta thalassemia patients that are classified as common mutations. In Mazandaran province (a northern province of Iran), IVS-II-1(G>A) mutation alone, with the prevalence of 61% among affected persons, is the most common mutation among beta thalassemia patients, and codon 30 (7.5%), codon 22 (6.2%), and codon 8 (-AA) (5.4%) mutations are other common mutations following IVS-II-1 (G>A) mutation [3, 5, 6]. +22