(2016) Molecular Characterization of β-Thalassemia Intermedia in Southeast Iran. Hemoglobin. pp. 173-178. ISSN 03630269 (ISSN)
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Abstract
Inheritance of mild mutations within the β-globin gene and coinheritance of α-thalassemia (α-thal) are known as two important genetic modifiers in β-thalassemia (β-thal) intermedia (β-TI). We aimed to evaluate the spectrum of β- and α-thal mutations in β-TI patients in Southeast Iran. Common β- and α-globin gene mutations were detected by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and multiplex gap-PCR, respectively. There were 26 male (57.8) and 19 female (42.2) patients. HBB: c.92 + 5T > C IVS-I-5 (G > C) and HBB: c.-138C + 1G > A IVS-II-I (G > A) represented the prevalent alleles with respective frequencies of 60.0 and 10.0%. Other β-globin mutations included HBB: c.-138C > T -88 (C > T), HBB: c.27-28insG frameshift codons (FSC) 8/9 (+G), HBB: c.46delT codon 15 (-T), HBB: c.93-22-95del (IVS-I, 25 del), and the 619 bp deletion (NG-000007.3: g.71609-72227del619). The predominant genotypic combinations were β0/β0 (68.9%), β0/β+(8.9%) and β+/β+(2.2%). Coinheritance of α-thal was observed in 33.0% of the patients, with the -α3.7 (rightward) (NG-000006.1: g.34164-37967del3804) as the most common deletion (86.0%). One patient was diagnosed with the -α4.2 (leftward) (AF221717) and one with the - -MED (g.24664-41064del16401) deletions, while no patients carried the -(α)20.5 (g.15164-37864del22701), α-5 nt (HBA2: c.95 + 2-95-6delTGAGG) or codon 19 (-G) (HBA2: c.56delG) mutations. The alleviating molecular mechanism was not explainable by β+ or concurrent α-thal in more than half of our β-TI patients. This encourages conducting more studies to identify other contributing factors, especially Hb F-inducing genetic modifiers. © 2016 Informa UK Limited, trading as Taylor & Francis Group.
Item Type: | Article |
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Keywords: | mutation(s) α-thalassemia (α-thal) β-thalassemia intermedia (β-TI) hemoglobin beta chain hemoglobin alpha chain adolescent adult amplification refractory mutation system polymerase chain reaction Article beta thalassemia blood transfusion child female frameshift mutation gene frequency genotype globin gene human Iran major clinical study male mean corpuscular volume multiplex polymerase chain reaction polymerase chain reaction preschool child school child young adult alpha thalassemia beta-Thalassemia dna mutational analysis genetics molecular epidemiology mutation alpha-Globins alpha-Thalassemia beta-Globins Humans |
Divisions: | |
Page Range: | pp. 173-178 |
Journal or Publication Title: | Hemoglobin |
Volume: | 40 |
Number: | 3 |
Identification Number: | 10.3109/03630269.2016.1167735 |
ISSN: | 03630269 (ISSN) |
Depositing User: | مهندس مهدی شریفی |
URI: | http://eprints.zbmu.ac.ir/id/eprint/3153 |
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