Marini R
Malaysia
Research Article
The Diagnosis of Beta Thalassemia with Borderline HbA2 Level among Kelantan Population
Author(s): Rosnah Bahar, Nani Shahida S, Mohd Nazri H, Marini R, Noor Haslina MN, Shafini MY and Wan Zaidah ARosnah Bahar, Nani Shahida S, Mohd Nazri H, Marini R, Noor Haslina MN, Shafini MY and Wan Zaidah A
Level of HbA2 more than 4% is the reliable parameter to identify β- thalassemia carrier. However, in some cases the level is not typically increased hence leading to diagnostic dilemma. Thus the objectives of this study were to evaluate the existence of β- thalassemia among borderline HbA2 sample. Out of 11,790 samples received for thalassemia screening, 405 (3.4%) were found to have borderline HbA2 level. Out of this, 117(28.9%) samples were selected by simple random sampling for PCR. Multiplex ARMS-PCR was used to detect β-globin gene mutation and multiplex gap PCR for α-globin genes deletion. The result revealed 36 (30.8%) had β-globin gene mutations, 8 (6.8%) had α-globin gene deletions and 1 (0.9%) had coexistence of α and β-globin gene defects.
The commonest gene mutation detected were CD 19 (A-G), detected from 17 (45.9%) sam.. View More»
DOI:
10.4172/2155-9864.1000396