科研之友
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摘要
Most of recognized alpha-thalassemia mutations include deletions of one or both a-globin genes. Here we describe a newly detected alpha-thalassemia-2 deletion characterized by a small 2.8 kb deletion involving the alpha 2 globin gene. This deletion has thus far been observed in one Chinese subject with hemoglobin H disease. Its breakpoints were detected to lie between coordinates 32485 and 35381 of the alpha-globin gene cluster (NG_000006.1), with a total of 2,894 nucleotides deleted. It was designated as -alpha(2.8) deletion. The proband is a compound heterozygote deletion of -(SEA) and -alpha(2.8), and the patient displayed very mild hemoglobin H disease phenotype with hemoglobin 9.8 g/dL. (Clin. Lab. 2012;58:1309-1312. DOI: 10.7754/Clin.Lab.2012.110910)
- 出版日期2012
- 单位重庆医科大学
