The Hb H Disease Genotypes in Southern China
The Hb H Disease Genotypes in Southern China
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中国南方地区Hb H病基因型
DOI：
10.3109/03630269.2013.855936
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发表时间：
2014-01-01
期刊：
影响因子：
1
通讯作者：
Chen, Suqin
中科院分区：
文献类型：
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作者：
Fang, Jianpei;Chen, Luming;Chen, Suqin
我们报告了2005年至2012年间在本中心就诊的435例Hb H （β 4）病患者的遗传数据。我们的结果显示，所有患者在一个等位基因上都有东南亚缺失（SEA）。在其他等位基因上最常见的是- α(3.7)（向右）缺失，其次是- α(4.2)（向左）缺失，Hb Constant Spring （Hb CS, alpha 142, Term -> Gln; HBA2: C . 427t >C）和Hb Quong Sze [Hb QS， alpha 125(H8)Leu -> Pro；HBA2: c. 377T> c]突变。2个罕见点突变，α 31(B12) Arg -> Lys；HBA2: c.95G>A和Hb Zurich Albisrieden [α 59(E8)Gly -> Arg；HBA1: C . 178g > [C]。4例患者伴有-地中海贫血（-thal）杂合性。我们的研究结果反映了中国南方Hb H疾病的遗传异质性以及Hb H疾病与β -thal性状之间的相互作用。
We report the genetic data of 435 patients with Hb H (beta 4) disease who presented at our center between 2005 and 2012. Our results showed that all patients had the Southeast Asian deletion (_ _(SEA)) on one allele. The -alpha(3.7) (rightward) deletion was the most common on the other allele, followed by the -alpha(4.2) (leftward) deletion, Hb Constant Spring (Hb CS, alpha 142, Term -> Gln; HBA2: c.427T>C) and Hb Quong Sze [Hb QS, alpha 125(H8)Leu -> Pro; HBA2: c. 377T>C] mutations. Two rare point mutations, alpha 31(B12) Arg -> Lys; HBA2: c.95G>A and Hb Zurich Albisrieden [alpha 59(E8)Gly -> Arg; HBA1: c.178G>C], were also identified. Four patients had a concomitant beta-thalassemia (beta-thal) heterozygosity. Our results reflect the genetic heterogeneity of Hb H disease and the interaction between Hb H disease and beta-thal trait in Southern China.