Utility Of The Multivariate Approach In Predicting β-Thalassemia Intermedia Or β-Thalassemia Major Types In Iranian Patients. (October 2013)

• Record Type: Journal Article
• Authors: Banan, Mehdi; Bayat, Hadi; Namdar-Aligoodarzi, Pegah; Azarkeivan, Azita; Kamali, Koorosh; Daneshmand, Parvaneh; Zaker-Kandjani, Behzad; Najmabadi, Hossein
• Is Part Of: Hemoglobin. Volume 37:Number 5(2013)
• Page Start: 413
• Page End: 422
• Publication Date: 2013-10
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2013.805418
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p>Recently, five genetic modifiers [β-globin mutations, coinheritance of α-thalassemia (α-thal), <italic>Xmn</italic>I polymorphism and single nucleotide polymorphisms (SNPs) in the <italic>BCL11A</italic> and <italic>HBS1L-MYB</italic> loci] were used to predict the β-thal major (β-TM) or β-thal intermedia (β-TI) types in 106 French patients with 83.2% accuracy. The dichotomous grouping was based on the age when the patient received his/her first transfusion (4 years). Here, a similar study was conducted in a cohort of 306 Iranian β-thal patients having distinct β-globin mutations and minor allele frequencies of key SNPs in these loci. Multivariate regression analyses and a simple scoring system were used to predict the β-TM/β-TI types using three scenarios: 1) when considering only the severe β-TM and the mild β-TI cases, 2) using clinical parameters for β-thal typing, and 3) using age at first transfusion as the basis for classification. Using these scenarios, the β-thal types could be correctly predicted in 77.6, 75.5 and 68.0% of cases, respectively.</p> </abstract>