Mutation Screening of the Krüppel-Like Factor 1 Gene Using Single-Strand Conformational Polymorphism in a Cohort of Iranian β-Thalassemia Patients. (February 2015)

• Record Type: Journal Article
• Authors: Zaker-Kandjani, Behzad; Namdar-Aligoodarzi, Pegah; Azarkeivan, Azita; Najmabadi, Hossein; Banan, Mehdi
• Is Part Of: Hemoglobin. Volume 39:Number 1(2015)
• Page Start: 24
• Page End: 29
• Publication Date: 2015-02
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2014.991023
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title>Abstract</title> <p>The Krüppel-like factor 1 (KLF1) is an essential erythroid-specific transcription factor. Mutations in the human <italic>KLF1</italic> 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 <italic>KLF1</italic> 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 (<italic>KLF1</italic>: c.911 + 84A &gt; G). The patient with the p.F182L variant (<italic>KLF1</italic>: c.544T &gt; C) had noticeably high Hb A₂ levels (7.6%), consistent with the phenotypic effect of several previously characterized <italic>KLF1</italic> mutations in the same exonic region. In addition, he had higher platelet counts (1, 069, 000/μL) compared to other patients in the cohort.</p> </abstract>