title: First Detection of a Splice Site β-Thalassemia Mutation, IVS-I-6 (T > C) (HBB: c.92 + 6T > C) in a Chinese Family.
abstract: We present the first description of Chinese individuals with the β-thalassemia (β-thal) mutation IVS-I-6 (T > C) (HBB: c.92 + 6T > C). This mutation interferes with mRNA splicing and results in reducing expression of β-globin chains that leads to a β(+)-thal phenotype. The β-globin haplotype anlaysis revealed the IVS-I-6 mutation in our case was linked with haplotype VI [- + + - - - +] and had Mediterranean characteristics.
authors: Prenatal Diagnosis Center, Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors: Biyan
authors: B
authors: Chen
authors: Peng
authors: P
authors: Huang
authors: Shang
authors: S
authors: Yi
authors: Qiuli
authors: Q
authors: Chen
authors: Yanqing
authors: Y
authors: Tang
authors: Qiang
authors: Q
authors: Zhang
authors: Sheng
authors: S
authors: He
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D002681:China; D004252:DNA Mutational Analysis; D004909:Erythrocyte Indices; D005260:Female; D005838:Genotype; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D022821:RNA Splice Sites; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; D055544:beta-Globins
keywords: phenotype; splice site mutation; β-Thalassemia (β-thal)