Study of possible genetic factors determining the clinical picture of Thalassemia intermedia

Abstract

The aim of this study was to evaluate some of the genetic factors involved in ameliorating the severity of β thalassemia among a group of Egyptian children with thalassemia intermedia. The study included 22 patients who were diagnosed on clinical basis as β thalassemia intermedia. Their age ranged between 3 and 21 years. They were screened for the most common seven genetic mutations of β-thalassemia evaluated in Egyptian studies: IVS1-6, IVS1-110, IVS2-1, IVS2-745, IVS1-1, -87 and codon 39, also screened for -158 Xmn polymorphism and co-inheritance of α-gene deletions. Present results showed that, the frequency of IVS1-6 was found to be 22.7% and of IVS1-110 was 18.2%, while IVS2-1, IVS2-745, IVS1-1, -87 and codon 39 were undetected The -158 Xmn polymorphism was detected in 2 out of 22 cases (9%) and co-inheritance of α-thalassemia was 5 out of 22 cases (22.7%) mm. This study showed that, the ameliorating factors in β-thalassemia intermedia may include the inheritance of mild β thalassemia allele as IVS1-6, the presence of -158 Xmn polymorphisms or co-inheritance of α-gene deletions. Identification of genetic pattern in thalassemia intermedia is essential for genetic counseling and prenatal diagnosis and also for the proper management of those patients.