caa a22 4500 463255623 CHVBK 20180405153354.0 cr unu---uuuuu 170326e20070901xx s 000 0 eng 10.1007/s00277-007-0310-x doi (NATIONALLICENCE)springer-10.1007/s00277-007-0310-x Molecular characterization and origins of Hb Constant Spring and Hb Paksé in Southeast Asian populations [Elektronische Daten] [Sanita Singsanan, Goonnapa Fucharoen, Onekham Savongsy, Kanokwan Sanchaisuriya, Supan Fucharoen] Hemoglobin Constant Spring (Hb CS) and Hb Paksé, two abnormal Hbs characterized by elongated α-globin chains resulting from mutations of the termination codon in the α2-globin gene, are the most prevalent nondeletional α-thalassemias in Southeast Asia. To determine the origins of these two variants in the region, we have determined α-globin gene haplotypes associated with these two variants on 120 Thai, eight Cambodian, and six Laos alleles, and the results were compared with those reported previously for the Chinese and Mediterranean. Five haplotypes were found to be associated with 131 αCS genes examined, whereas a single haplotype was linked to all the αPaksé genes in these Southeast Asian populations. All the αCS haplotypes differed from those of the Mediterranean, but one of them was similar to a Chinese αCS gene reported previously. It is concluded that there are multiple origins of the αCS and a single origin of the αPaksé mutations in Southeast Asia. Hematological findings confirm the mild thalassemia intermedia phenotypes for pure homozygous Hb CS and homozygous Hb CS with Hb E heterozygote and Hb E homozygote. The appearance of Hb CS peak by high-performance liquid chromatography analysis indicates the ability to form a tetrameric Hb molecule between the αCS and βE chains, leading to a novel derivative with similar characteristics to Hb CS. Springer-Verlag, 2007 α-Globin haplotype nationallicence Hb Constant Spring nationallicence Hb Paksé nationallicence Hb E nationallicence Thalassemia nationallicence Southeast Asian populations nationallicence Singsanan Sanita Graduate School, Faculty of Associated Medical Sciences, Khon Kaen University, 40002, Khon Kaen, Thailand aut Fucharoen Goonnapa Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, 40002, Khon Kaen, Thailand aut Savongsy Onekham Graduate School, Faculty of Associated Medical Sciences, Khon Kaen University, 40002, Khon Kaen, Thailand aut Sanchaisuriya Kanokwan Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, 40002, Khon Kaen, Thailand aut Fucharoen Supan Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, 40002, Khon Kaen, Thailand aut Annals of Hematology Springer-Verlag 86/9(2007-09-01), 665-669 0939-5555 86:9<665 2007 86 277 https://doi.org/10.1007/s00277-007-0310-x text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00277-007-0310-x text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Singsanan Sanita Graduate School, Faculty of Associated Medical Sciences, Khon Kaen University, 40002, Khon Kaen, Thailand aut NATIONALLICENCE 700 1- Fucharoen Goonnapa Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, 40002, Khon Kaen, Thailand aut NATIONALLICENCE 700 1- Savongsy Onekham Graduate School, Faculty of Associated Medical Sciences, Khon Kaen University, 40002, Khon Kaen, Thailand aut NATIONALLICENCE 700 1- Sanchaisuriya Kanokwan Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, 40002, Khon Kaen, Thailand aut NATIONALLICENCE 700 1- Fucharoen Supan Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, 40002, Khon Kaen, Thailand aut NATIONALLICENCE 773 0- Annals of Hematology Springer-Verlag 86/9(2007-09-01), 665-669 0939-5555 86:9<665 2007 86 277 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer