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Detection of Common Beta Globin Gene Mutations on Heterozygous Beta Thalassemia Including Haemoglobin E among High School Students

Khin Moe Aung, Aye Aye Lwin, Haung Naw, Nan Cho Nwe Mon, Hnin Ohmar Soe ,Myitzu Tin Oung,Nilar Wynn, Ne Win
Affiliations
*1 Department of Medical Research (Pyin Oo Lwin Branch) 2 Department of Medical Research 3 University of Medicine (Mandalay) 4 Myanmar Academy of Medical Science
:10.22362/ijcert/2020/v7/i01/v7i101


Abstract
Beta thalassemia is one of the most common genetic disorders worldwide with a defect in haemoglobin synthesis including Myanmar. This study was conducted to determine the proportion of high school students who have heterozygous ?-thalassaemia including Hb E and different types of common beta globin gene mutations by multiplex polymerase chain reaction. This community-based cross-sectional descriptive study was done in Myanmar adolescents in 2017. A total 290 apparently healthy high school students in which male 140 (48.3%) and female 150 (51.7%) studying in Basic Education High School, Anisakhan, Pyin Oo Lwin Township, Mandalay District, Myanmar were involved. Thalassaemia screening tests were done by combined NESTROFT/DCIP precipitation and confirmed test was done by Isoelectric Focusing (IEF). PCR- based genetic confirmatory by using mutant genes IVS 1-1, CD 41/42, IVS 1-5, CD 17, and nt-28. Total 131 cases (131/290, 45.2%) were positive with either of the two screening tests. These cases were considered as thalassaemia trait (carrier) and/or haemoglobin E carrier. Isoelectric focusing was done to find Hb E by which 45 cases (45/131, 34.3%) were found to have Hb E carrier. Remaining 86 cases were further run multiplex- PCR to detect beta thalassaemia carrier. Total 44 out of 86 cases were ?-thalassaemia traits (25 CD 41/42 (-TCTT), 13 IVS 1-5 (G-C), 1 IVS 1-1 (G-T); 5 compound heterozygous (IVS 1-5(G-C) /CD 41/42 (-TCTT)). CD 17 (A-T) and nt 28 (A-G) mutations were not detected in this study. NESTROFT screening test has 87% sensitivity and 82% sensitivity for the detection of Hb E carrier and ?-thalassaemia carrier respectively. DCIP screening test has 67.1% sensitivity and 68% sensitivity for the Hb E carrier and ?-thalassaemia carriers respectively. Combined both screening tests have 100% sensitivity for the detection of Hb E and ?-thalassaemia carriers. This study has highlighted that both screening tests should be used for population screening of thalassaemia and haemoglobinopathies in Myanmar.


Citation
Khin Moe Aung,Aye Aye Lwin,Haung Naw,Nan Cho Nwe Mon,Hnin Ohmar Soe ,Myitzu Tin Oung,Nilar Wynn, Ne Win."Detection of Common Beta Globin Gene Mutations on Heterozygous Beta Thalassemia Including Haemoglobin E among High School Students". International Journal of Computer Engineering In Research Trends (IJCERT) ,ISSN:2349-7084 ,Vol.7, Issue 01,pp.1-7,January - 2020, URL :https://ijcert.org/ems/ijcert_papers/V7I101.pdf,


Keywords : beta thalassaemia, beta globin gene, haemoglobin E, high school students

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DOI Link : https://doi.org/10.22362/ijcert/2020/v7/i01/v7i101

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