Molecular aspects of the common types of β-thalassemia mutations among Sudanese patients: a cross sectional study

OBJECTIVE: The study sought to identify the most common types of mutations in beta-thalassemia Sudanese patients in Khartoum State, as well as their relationship to anemia severity. PATIENTS AND METHODS: From July 2017 to July 2021, a cross-sectional study was conducted on 100 samples from known beta-thalassemia patients attending public health hospitals in Khartoum State, and fifty samples were taken from apparently healthy controls. Using a PCR test, blood samples were analyzed to detect the most common types of mutations. RESULTS: For the five mutations included in the study (IVS-I-110(G-A), IVS-I-1(G-A), IVS-I- 6(T-C), IVS-I-5(G-C), and β_87(C-G)), 25% of the patients were positive and 75% were negative, while the entire control group was negative for all five mutations. Positive results were found in only three of the five mutations tested; the most common was IVS-I-110, which was found in 14 (56%) of the subjects, followed by IVS-I-6 (T) in 7 (28%), and IVS-I-1 in only 4 (16%) of the subjects. IVS-I-5 and β_87 mutations were not found in the study subjects. The Hb electrophoresis pattern revealed an increase in HbA2 (6.455±0.1318%), a decrease in HbF (1.865±0.1668%), and a decrease in HbA (78.50±0.2858%). The mean serum iron level was 82.99±3.063 ug/dL, which was considered normal. CONCLUSIONS: According to the findings, the IVS-1-110 mutation is the most common among Sudanese beta-thalassemia patients. Each type of positive mutation caused mild to moderate anemia.