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The molecular basis of HbH disease in Taiwan
Authors:Hong-Wen Peng  Shou-Hwa Han  Teh-Yuan Chow  Chao-Hung Ho  King-Nien Ching  Benjamin N Chiang
Institution:(1) Department of Medicine, Veterans General Hospital, Taipei, Taiwan, Republic of China;(2) Department of Medical Research, Veterans General Hospital, Taipei, Taiwan, Republic of China;(3) Institute of Botany, Academia Sinica, Taipei, Taiwan, Republic of China;(4) Institute of Medical Sciences, National Defense Medical Centre, Taipei, Taiwan, Republic of China
Abstract:Summary We have determined the molecular characteristics of agr-thalassemia in 12 HbH subjects from Taiwan by restriction endonuclease mapping with agr-and zeta-specific probes. We have found four types of defects in the agr-thalassemia-2 genetic determinant: agr3.7 type I; agr4.2; agrCS; and agragrT. All HbH subjects carried the ——SEA genotype in the agr-thalassemia-1 determinant. At least two different subtypes of ——SEA genotype were observed in this study.
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