Pathrapol Lithanatudom1, Pornnapa Khampan2, Duncan R Smith3, Saovaros Svasti2, Suthat Fucharoen2, Daoroong Kangwanpong1, Jatupol Kampuansai1. 1. a Department of Biology, Faculty of Science , Chiang Mai University , Chiang Mai 50202 , Thailand. 2. b Thalassemia Research Center, Institute of Molecular Biosciences , Mahidol University , Salaya , Nakhonpathom 73170 , Thailand. 3. c Molecular Pathology Laboratory, Institute of Molecular Biosciences , Mahidol University , Salaya , Nakhonpathom 73170 , Thailand.
Abstract
BACKGROUND: Northern Thailand is one of the highest α-thalassemia incidence areas where 30-40% of inhabitants have been reported to carry aberrant α-globin genes. However, all previous α-thalassemia prevalence surveys in northern Thailand have been undertaken without consideration of ethnicity. Here we report the prevalence of α-thalassemia genes in 4 Tai (Yong, Yuan, Khuen, Lue) and 4 Mon-Khmer speaking populations (Blang, Mon, Paluang, Lawa). METHODS: DNA extracted from 141 individuals was genotyped for 4 α-thalassemia deletional types (--(SEA), --(THAI), -α(3.7), -α(4.2)) using MultiplexGap-PCR analysis and 2 non-deletional types (Hb CS, Hb Pakse) using dot-blot hybridization technique. RESULTS AND DISCUSSION: A total of 33 α-thalassemia carrying individuals (23.4%) were detected of which 32 were heterozygotes and one was a homozygote. The most common α-thalassemia detected were -α(3.7) (17.7%) and --(SEA) (3.5%), while Hb CS was detected in 2.1% of cases. No occurrence of --(THAI), -α(4.2) and Hb Pakse was observed. The prevalence of α-thalassemia carriers varied between the different ethnic groups, with the Yuan having the highest prevalence of α-thalassemia carriers (50%) while the Lawa had the lowest prevalence (0%). The Paluang had a high prevalence (42%) of a single deletion type (-α(3.7)) possibly related to the endogamous marriage traditions of this ethnic group. CONCLUSION: The extreme variation of α-thalassemia prevalence among the different ethnic groups highlights the significantly different genetic backgrounds found in these peoples, as consequences of dissimilar cultures. Our study suggests that ethnicity must be considered in any of the disease-causing allele prevalence surveys in this region.
BACKGROUND: Northern Thailand is one of the highest α-thalassemia incidence areas where 30-40% of inhabitants have been reported to carry aberrant α-globin genes. However, all previous α-thalassemia prevalence surveys in northern Thailand have been undertaken without consideration of ethnicity. Here we report the prevalence of α-thalassemia genes in 4 Tai (Yong, Yuan, Khuen, Lue) and 4 Mon-Khmer speaking populations (Blang, Mon, Paluang, Lawa). METHODS: DNA extracted from 141 individuals was genotyped for 4 α-thalassemia deletional types (--(SEA), --(THAI), -α(3.7), -α(4.2)) using MultiplexGap-PCR analysis and 2 non-deletional types (Hb CS, Hb Pakse) using dot-blot hybridization technique. RESULTS AND DISCUSSION: A total of 33 α-thalassemia carrying individuals (23.4%) were detected of which 32 were heterozygotes and one was a homozygote. The most common α-thalassemia detected were -α(3.7) (17.7%) and --(SEA) (3.5%), while Hb CS was detected in 2.1% of cases. No occurrence of --(THAI), -α(4.2) and Hb Pakse was observed. The prevalence of α-thalassemia carriers varied between the different ethnic groups, with the Yuan having the highest prevalence of α-thalassemia carriers (50%) while the Lawa had the lowest prevalence (0%). The Paluang had a high prevalence (42%) of a single deletion type (-α(3.7)) possibly related to the endogamous marriage traditions of this ethnic group. CONCLUSION: The extreme variation of α-thalassemia prevalence among the different ethnic groups highlights the significantly different genetic backgrounds found in these peoples, as consequences of dissimilar cultures. Our study suggests that ethnicity must be considered in any of the disease-causing allele prevalence surveys in this region.
Authors: Hyun Ji Lee; Kyung Hwa Shin; Hyung Hoi Kim; Eu Jeen Yang; Kyung Hee Park; Min Ju Kim; Jeong Ran Kwon; Young Sil Choi; Jun Nyun Kim; Myung Geun Shin; Yong Gon Cho; Sun Jun Kim; Kyeong Hee Kim; Seri Jeong; Seom Gim Kong; Yu Jin Jung; Nayoung Lee; Man Jin Kim; Moon Woo Seong Journal: Ann Lab Med Date: 2019-03 Impact factor: 3.464