Shafini MY
Malaysia
Research Article
The Diagnosis of Beta Thalassemia with Borderline HbA2 Level among Kelantan Population
Author(s): Rosnah B, Nani Shahida S, Mohd Nazri H, Marini R, Noor Haslina MN, Shafini MY, Wan Zaidah A
Rosnah B, Nani Shahida S, Mohd Nazri H, Marini R, Noor Haslina MN, Shafini MY, 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