title: Mutation screening of the Krüppel-like factor 1 gene using single-strand conformational polymorphism in a cohort of Iranian β-thalassemia patients.
abstract: The Krüppel-like factor 1 (KLF1) is an essential erythroid-specific transcription factor. Mutations in the human KLF1 gene have different phenotypic effects, ranging from increased Hb F levels to the disruption of erythropoiesis. Here, we screened 227 Iranian β-thalassemia (β-thal) patients for the presence of KLF1 mutations by using the single-strand conformational polymorphism (SSCP) approach. Our aim was to assess the potential effect of these mutations on the β-thal disease severity. After screening, two variants were found. One patient carried a potentially deleterious variant (Polyphen-2) in exon 2 (p.F182L). Another patient was homozygous for a previously unreported intronic variant (KLF1: c.911 + 84A > G). The patient with the p.F182L variant (KLF1: c.544T > C) had noticeably high Hb A2 levels (7.6%), consistent with the phenotypic effect of several previously characterized KLF1 mutations in the same exonic region. In addition, he had higher platelet counts (1,069,000/μL) compared to other patients in the cohort.
authors.affiliation: Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences , Tehran , Iran.
authors.forename: Behzad
authors.initials: B
authors.lastname: Zaker-Kandjani
authors.forename: Pegah
authors.initials: P
authors.lastname: Namdar-Aligoodarzi
authors.forename: Azita
authors.initials: A
authors.lastname: Azarkeivan
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.forename: Mehdi
authors.initials: M
authors.lastname: Banan
mesh_terms: D000328:Adult; D001483:Base Sequence; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D006443:Hemoglobin A2 / Q000032:analysis; D006801:Humans; D007492:Iran / Q000453:epidemiology; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D055815:Young Adult; D017086:beta-Thalassemia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*
chemical_list: D051741:Kruppel-Like Transcription Factors; C080774:erythroid Kruppel-like factor; D006443:Hemoglobin A2
keywords: Krüppel-like factor 1 (KLF1); mutation screening; single-strand conformational polymorphism (SSCP); β-Thalassemia (β-thal)