Identification and Molecular Characterization of the Most Common Types of Beta Thalassemia Mutations in Sudanese Patients

Thalassemia is a common inherited disorder among humans, and they represent a major public health problem in many areas of the world. The spectrum of mutations varies significantly between different geographical regions; only a few common mutations of β-globin cause β-thalassemia in each population. This is a cross-sectional study conducted in Sudan, among 61 known beta thalassemic patients arrived at public health hospitals of Khartoum State, during the period of July 2017 to July 2019. The study was aimed to detect the most common types of mutations in Beta Thalassemic Sudanese patient in Khartoum State. Blood samples from 61 beta thalassemic patients were analyzed to detect the most common types of mutations in Beta Thalassemia using PCR assay. the frequency of adults (>18 years) was 45 (73.8%), and 16 (26.2%) were Children (<18 years)., The frequency of male to female was 27 (44.3%) and 34 (55.7%) respectively. The results obtained were, 25 patients positive and 36 patients were negative to 5 mutations including in the study. The frequency of positive mutations to IVS-I-110 (G→A) were 14 (56%) common one followed by IVS-I-6 (T→C) mutation were positive in 7 patients (28%) and IVS-I-1(G→A) mutation was seen in 4 (16%) patients, whereas 36 (59%) patients show negative for βIVS-I-5 (G→C) and -87 which were not detected in the present study. This preliminary information regarding the mutational pattern is important for establishing prenatal diagnosis programs. The results showed that, IVS-1-110 (G→C) mutations is the most frequent mutation encountered among the beta thalassaemic samples.