Line probe assay for detection of alpha thalassemia: a pilot study

ABSTRACT

This pilot study was initiated with a view to find alpha thalassemia genotypes on de-identified samples from patients diagnosed with anaemia at the Centre for Advanced Biomedical research and Innovation [CABRI] at Gulf Medical University [GMU] in June 2015. Amplified DNA from the samples was probed for mutations using a line probe assay. Results obtained are presented. The study has shown the 3.7 single gene deletion in three cases, and alpha 2 IVS1 [-5nt] mutation seen in one case suggesting these cases have alpha + thalassemia. One sample showed wild type alpha 2 Poly A missing along with the alpha 2 poly a-1 [AATAAA>AATAAG] mutation with a suggestive diagnosis of HbH disease. A SEA double gene deletion was seen in one case suggesting alpha 0-thalassemia. Further studies are being carried out to enhance the data base