Missed Diagnosis of α-Globin Gene Cluster Duplication in Prenatal Screening: Identified Incidentally by Invasive Testing.
作者信息
Yang Yu, Zhen Li, Li Dong-Zhi
机构信息
Guangzhou Women and Children's Medical Center, Jinsui Road 9, Guangzhou, 510623 Guangdong China.
出版信息
Indian J Hematol Blood Transfus. 2022 Jul;38(3):606-608. doi: 10.1007/s12288-022-01520-6. Epub 2022 Jan 20.
Abstract
摘要
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本文引用的文献
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Thalassemia Intermedia Caused by 16p13.3 Sectional Duplication in a β-Thalassemia Heterozygous Child.
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Association of an α-globin gene cluster duplication and heterozygous β-thalassemia in a patient with a severe thalassemia syndrome.
Hemoglobin. 2015;39(2):102-6. doi: 10.3109/03630269.2015.1012678. Epub 2015 Feb 18.
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Alpha globin gene duplications in beta thalassemia patients with intact beta globin gene.
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Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients.
Blood Cells Mol Dis. 2008 May-Jun;40(3):312-6. doi: 10.1016/j.bcmd.2007.11.006. Epub 2008 Jan 14.
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Pathophysiology of thalassemia.
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