Jiang Hua, Liu Sha, Zhang Yong-Ling, Wan Jun-Hui, Li Ru, Li Dong-Zhi
Department of Hematology/Oncology, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University , Guangzhou, Guangdong , People's Republic of China and.
Hemoglobin. 2015;39(2):102-6. doi: 10.3109/03630269.2015.1012678. Epub 2015 Feb 18.
We describe a new case of a β-thalassemia (β-thal) heterozygote with the mutation IVS-II-654 (C>T) presenting with a transfusion-dependent phenotype. Multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (CGH) analyses of the α-globin gene cluster revealed a full duplication of the α-globin genes including the upstream regulatory element. The duplicated allele and the normal allele in trans resulted in a total of six active α-globin genes. The severe clinical phenotype seemed to be related to the considerable excess of the α- and β-globin deficit caused by the presence of the β-thal. α-Globin cluster duplication should be considered in patients heterozygous for β-thal who show a more severe phenotype than β-thal trait.
我们描述了一例新的β地中海贫血（β-地贫）杂合子病例，该患者携带IVS-II-654（C>T）突变，表现出输血依赖型表型。对α珠蛋白基因簇进行多重连接依赖探针扩增（MLPA）和阵列比较基因组杂交（CGH）分析发现，α珠蛋白基因包括上游调控元件完全重复。反式排列的重复等位基因和正常等位基因导致共有六个活性α珠蛋白基因。严重的临床表型似乎与β-地贫导致的α和β珠蛋白严重缺乏有关。对于表现出比β-地贫特征更严重表型的β-地贫杂合子患者，应考虑α珠蛋白基因簇重复的情况。
