title: Identification of Two Novel β-Thalassemia Mutations (HBB: c.335-346del and HBB: c.108 C > G) in Han Chinese.
abstract: β-Thalassemia (β-thal) is an inherited blood disorder characterized by reduced or absent synthesis of the β chains of hemoglobin (Hb). Although a number of causative mutations have been reported, here we report two novel mutations detected in Chinese patients. Red blood cell (RBC) indices were indicative of β-thal, but no mutations were detected by routine methods. Sequencing of the β-globin gene uncovered one mutant with a 12 bp deletion (TCTGTGTGCTGG) from codon 111 to codon 115 (HBB: c.335-346del12bp) in exon 3. The other was found to be a nonsense mutation at codon 35 (HBB: c.108 C > G). The identification of these novel mutations will facilitate future diagnoses of β-thal caused by either of these mutations and will also be useful for genetic counseling and prenatal diagnosis.
authors.affiliation: a Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of the Ministry of Health, the First Affiliated Hospital of Soochow University , Suzhou , People's Republic of China.
authors.forename: Wenjuan
authors.initials: W
authors.lastname: Wang
authors.forename: Qian
authors.initials: Q
authors.lastname: Wang
authors.forename: Tingting
authors.initials: T
authors.lastname: Tao
authors.forename: Aining
authors.initials: A
authors.lastname: Sun
authors.forename: Changgeng
authors.initials: C
authors.lastname: Ruan
authors.forename: Suning
authors.initials: S
authors.lastname: Chen
mesh_terms: D000328:Adult; D044466:Asian People; D002681:China; D003062:Codon; D006239:Haplotypes; D006801:Humans; D008297:Male; D009154:Mutation; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D003062:Codon; D055544:beta-Globins
keywords: Chinese; hemoglobin (Hb); novel mutation; β-Globin; β-thalassemia (β-thal)