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

R.H. Elshaikh, H.E.H. Babikir, A.M.A. Babker, A.S.B. Shaya, A. Alfahed, N.S. Alharthi, A.M. Hjazi, H.A. Waggiallah

Department of Hematology, College of Medical Laboratory Sciences, University of Science and Technology, Omdurman, Sudan. hishamwagg30@hotmail.com

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• Hematology

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.

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