Article
Thalassemia Intermedia Caused by 16p13.3 Sectional Duplication in a β-Thalassemia Heterozygous Child.
Pediatric hematology and oncology - 1 Jan 2015
Liu Sha, Jiang Hua, Wu Man-Yu, Zhang Yong-Ling, Li Dong-Zhi
Abstract excerpt
Thalassemia intermedia is an inherited hemoglobin disorder characterized by a significant genetic and clinical heterogeneity. A wide spectrum of different genotypes-homozygous, heterozygous, and compound heterozygous-have been found to be responsible for it. The authors describe a Chinese child of β-thalassemia heterozygote with the mutation IVS2-654 (C→T) (HBB:c.316-197C→T) presenting with severe thalassemia...
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