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The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity by Wanqun Chen; Xinhua Zhang; Xuan Shang; Ren Cai; Liyan Li; Tianhong Zhou; Manna Sun; Fu Xiong; Xiangmin Xu is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity about?
## Abstract ## Background The clinical syndrome of thalassemia intermedia (TI) results from the β-globin genotypes in combination with factors to produce fetal haemoglobin (HbF) and/or co-inheritance of α-thalassemia. However, very little is currently known of the molecular basis of Chinese TI patients. ## Methods We systematically analyzed and characterized β-globin genotypes, α-thalassemia determinants, and known primary genetic modifiers linked to the production of HbF and the aggravation of α/β imbalance in 117 Chinese TI patients. Genotype-phenotype correlations were analyzed based on retrospective clinical observations. ## Results A total of 117 TI patients were divided into two major groups, namely heterozygous β-thalassemia (n = 20) in which 14 were characterized as having a mild TI with the Hb levels of 68-95 g/L except for five co-inherited ααα^anti-3.7^ triplication and one carried a dominant mutation; and β-thalassemia homozygotes or compound heterozygotes for β-thalassemia and other β-globin defects in which the β^+^-thalassemia mutation was the most common (49/97), hemoglobin E (HbE) variants was second (27/97), and deletional hereditary persistence of fetal hemoglobi
Who reads The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Wanqun Chen; Xinhua Zhang; Xuan Shang; Ren Cai; Liyan Li; Tianhong Zhou; Manna Sun; Fu Xiong; Xiangmin Xu
- Publisher
- BioMed Central; Springer (Biomed Central Ltd.); London: BioMed Central, 2000-; Springer Science and Business Media LLC (ISSN 1471-2350)
- Published
- 2010
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)