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Alpha-thalassemia in the four major aboriginal groups in Taiwan
Authors:Tsang-Ming Ko  Tai-Ann Chen  Mei-Ing Hsieh  Li-Hui Tseng  Fon-Jou Hsieh  Sou-Ming Chuang  Tzu-Yao Lee
Institution:(1) Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei, Taiwan, Republic of China;(2) Department of Medical Genetics, College of Medicine, National Taiwan University, Taipei, Taiwan, Republic of China;(3) Institute of Biomedical Sciences, Academia Sinica and Department of Psychiatry, College of Medicine, National Taiwan University, Taipei, Taiwan, Republic of China;(4) Department of Medical Genetics, National Taiwan University Hospital, No. 7, Chung Shan S. Rd., 10016 Taipei, Taiwan, Republic of China
Abstract:A total of 1309 unrelated blood samples from four major Taiwan aboriginal groups, including 522 of the Ami, 246 of the Bunun, 227 of the Atayal, and 214 of the Paiwan groups, were collected. Subjects with a mean corpuscular volume below 85 fl and Hb A2 values below 3.5% were further studied with Southern hybridization to determine the status of agr-globin genes. In the Ami, 43 (4.1%) chromosomes had agr-thalassemia 1 and 43 (4.1%) had agr-thalassemia 2. Of the 43 agr-thalassemia 1 chromosomes, 33 were of the Thailand, one of the Philippine, and nine of the Southeast Asian deletion. Of the 43 agr-thalassemia 2 chromosomes, 42 were of the type I rightward deletion and one was of leftward deletion. In the Bunun group, one chromosome (0.2%) was of the Thailand deletion and two (0.4%) were of type I rightward deletion. In the Atayal group, only one chromosome (0.2%) was of the Philippine deletion. In the Paiwan group, four chromosomes (0.9%) were of the Southeast Asian deletion and three (0.7%) were of the Thailand deletion. Among the four groups, the Ami had the highest prevalence of agr-thalassemia, which was also higher than that of the Chinese living in Taiwan.
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