Open AccessA comprehensive ethnic-based analysis of alpha thalassaemia allelle frequency in northern Thailand
Author(s) -
Mattapong Kulaphisit,
Jatupol Kampuansai,
Kamonlak Leecharoenkiat,
Methi Wathikthinnakon,
Daoroong Kangwanpong,
Thongperm Munkongdee,
Saovaros Svasti,
Suthat Fucharoen,
Duncan R. Smith,
Pathrapol Lithanatudom
Publication year - 2017
Publication title -
scientific reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.24
H-Index - 213
ISSN - 2045-2322
DOI - 10.1038/s41598-017-04957-2
Subject(s) - ethnic group , allele , allele frequency , incidence (geometry) , demography , confidence interval , genetics , alpha (finance) , beta thalassaemia , alpha thalassemia , medicine , geography , biology , thalassemia , genotype , gene , surgery , political science , construct validity , patient satisfaction , physics , optics , sociology , law
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 (-α 3.7 , -α 4.2 , -- SEA and -- THAI ) and/or non-deletional alpha-thalassaemia (α CS and α PS ) via multiplex gap-PCR and dot-blot hybridization, respectively. Alpha + (-α 3.7 , -α 4.2 , α CS and α PS ) and alpha°-thalassaemia (-- SEA and -- 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 ethnic groups was observed. The highest α + -thalassaemia allele frequency was found 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.