Association of an alpha-Globin Gene Cluster Duplication and Heterozygous beta-Thalassemia in a Patient with a Severe Thalassemia Syndrome

作者：Jiang, Hua; Liu, Sha; Zhang, Yong-Ling; Wan, Jun-Hui; Li, Ru; Li, Dong-Zhi^*

来源：Hemoglobin, 2015, 39(2): 102-106.

DOI：10.3109/03630269.2015.1012678

• alpha/beta Ratio
• alpha-globin gene duplication
• beta-thalassemia (beta-thal)
• multiplex ligation-dependent probe amplification (MLPA)

We describe a new case of a beta-thalassemia (beta-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 a-globin gene cluster revealed a full duplication of the alpha-globin genes including the upstream regulatory element. The duplicated allele and the normal allele in trans resulted in a total of six active alpha-globin genes. The severe clinical phenotype seemed to be related to the considerable excess of the alpha- and beta-globin deficit caused by the presence of the beta-thal. alpha-Globin cluster duplication should be considered in patients heterozygous for beta-thal who show a more severe phenotype than beta-thal trait.

• 出版日期2015
• 单位广州医科大学; 广州市妇女儿童医疗中心