A comprehensive ethnic-based analysis of alpha thalassaemia allelle frequency in northern Thailand article

• Main Authors: Mattapong Kulaphisit, Jatupol Kampuansai, Kamonlak Leecharoenkiat, Methi Wathikthinnakon, Daoroong Kangwanpong, Thongperm Munkongdee, Saovaros Svasti, Suthat Fucharoen, Duncan R. Smith, Pathrapol Lithanatudom
• Format: Journal
• Published: 2018
• Subjects: Multidisciplinary
• Online Access: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85021903308&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/57962
• Institution: Chiang Mai University

© 2017 The Author(s). Alpha (α)-thalassaemia is one of the most prevalent hereditary blood disorders, commonly affecting Southeast Asian people, with the highest incidence (30-40%) being seen in northern Thailand. However, this high incidence was estimated without consideration of the variations between ethnic populations and the geographical location of the populations. To address this issue, a total of 688 samples from 13 different northern Thai ethnic groups (30 villages) categorized into three linguistic groups were genotyped for deletional alpha-thalassaemia (-α3.7,-α4.2,-SEAand-THAI) and/or non-deletional alpha-thalassaemiaαCSand αPS) via multiplex gap-PCR and dot-blot hybridization, respectively. Alpha+(-α3.7,-α4.2, αCSand αPS) and alpha°-thalassaemia (-SEAand-THAI) allele frequencies (with 95% Confidence Interval) were the highest in the Sino-Tibetan group [0.13 (0.08-0.18)] and the Tai-Kadai group [0.03 (0.02-0.05)], respectively. With regards to ethnicity, the varying allele frequency of α+and α°-thalassaemia amongst a variety of ethnicgroups was observed. The highest α+-thalassaemia allele frequency wasfound in the Paluang [0.21 (0.10-0.37)] while α°-thalassaemia allele frequency was the highest in the Yuan [0.04 (0.01-0.10)]. These detailed results of alpha thalassaemia allele frequency and genetic diversity amongst the northern Thai ethnic groups demonstrate the need for ethnicity based thalassaemia prevention programs.