Missed Diagnosis of α-Globin Gene Cluster Duplication in Prenatal Screening: Identified Incidentally by Invasive Testing
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology
Link
https://link.springer.com/content/pdf/10.1007/s12288-022-01520-6.pdf
Reference5 articles.
1. Schrier SL (2002) Pathophysiology of thalassemia. Curr Opin Hematol 9:123–126
2. Liu S, Jiang H, Wu MY et al (2015) Thalassemia intermedia caused by 16p13.3 sectional duplication in a β-thalassemia heterozygous child. Pediatr Hematol Oncol 32:349–353
3. Jiang H, Liu S, Zhang YL et al (2015) Association of an α-globin gene cluster duplication and heterozygous β-thalassemia in a patient with a severe thalassemia syndrome. Hemoglobin 39:102–106
4. Harteveld CL, Refaldi C, Cassinerio E et al (2008) Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients. Blood Cells Mol Dis 40:312–316
5. Faà V, Masala M, Cao A et al (2010) Alpha globin gene duplications in beta thalassemia patients with intact beta globin gene. Blood Cells Mol Dis 44:156–1568
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