Molecular Detection of Beta-Globin Gene Mutations of Ethnic Riau Malay Thalassaemia Patients by Polymerase Chain Reaction and Sequens DNA

Elmi Elmi, Ellyza Nasrul, Sumaryati Syukur, Susi Susanah


Beta-thalassaemia major is an autosomal recessive disorder that results in severe microcytic, hypochromic, haemolytic anemia among affected patients. Beta-thalassaemia has emerged as one of the most common public health problems in Indonesia, particularly among Riau Malays. This study aimed to observe the spectrum of mutations found in Riau Malay beta-thalassaemia major patients who attended the Thalassaemia Center, Arifin Achmad Hospital University Riau Pekanbaru, Indonesia. This was a cross-sectional study conducted with 68 Riau Malay beta- thalassaemia major patients. DNA was extracted from the blood collected from the patients and subjected to polymerase chain reaction (PCR) amplification. Pcr product to sequens for the detection of mutations. The results revealed four mutations in the HBB at Riau Malay beta- thalassaemia patients; IVS-1 nt5 (G > C), codon 26/HbE (G > A), IVS-1 nt1 (G > T), IVS-1 nt2 (T> C ) the two most common mutations observed were codon 26 (G >A) and IVS-1 nt5 (G > C). Four  Riau Malay patients in the present study, however, did not show any mutation in studied.


Beta-globin gene; thalassaemia; gene mutation; anemia.

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