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.

[1]  Giannis Tzimas,et al.  Updates of the HbVar database of human hemoglobin variants and thalassemia mutations , 2013, Nucleic Acids Res..

[2]  C. Liao,et al.  A novel β-globin gene deletion (codons 89–93) in a Chinese family , 2010, Annals of Hematology.

[3]  C. Liao,et al.  First detection of the codons 41–43 (−CTTTG,+A) β-thalassemia mutation in a Chinese patient , 2008, Annals of Hematology.

[4]  R. Ljung,et al.  The thalassaemia syndromes , 2007, Scandinavian journal of clinical and laboratory investigation.

[5]  G. Efremov.  Thalassemias and Other Hemoglobinopathies in the Republic of Macedonia , 2007, Hemoglobin.

[6]  M. Saber,et al.  Rapid Detection of β-Thalassemia Alleles in Egypt Using Naturally or Amplified Created Restriction Sites and Direct Sequencing: A Step in Disease Control , 2007, Hemoglobin.

[7]  G. Vona,et al.  β‐globin gene cluster haplotypes associated with β‐thalassemia on Corsica island , 2005 .

[8]  Ç. Altay.  The Frequency and Distribution Pattern of ß-Thalassemia Mutations in Turkey. , 2002, Turkish journal of haematology : official journal of Turkish Society of Haematology.

[9]  D. Filon,et al.  THE β+-IVS-I-6 (T → C) MUTATION ACCOUNTS FOR HALF OF THE THALASSEMIA CHROMOSOMES IN THE PALESTINIAN POPULATIONS OF THE MOUNTAIN REGIONS , 2002, Hemoglobin.

[10]  N. Olivieri,et al.  Severity of β‐thalassemia due to genotypes involving the IVS‐I‐6 (T→C) mutation , 1995 .

[11]  Qiang Zhang,et al.  Prenatal diagnosis of β-thalassemia in Guangxi Zhuang Autonomous Region, China , 2013, Archives of Gynecology and Obstetrics.