Repository of Research and Investigative Information

Repository of Research and Investigative Information

دانشگاه علوم پزشکی و خدمات بهداشتی درمانی زنجان

UTILITY OF THE MULTIVARIATE APPROACH IN PREDICTING beta-THALASSEMIA INTERMEDIA OR beta-THALASSEMIA MAJOR TYPES IN IRANIAN PATIENTS

(2013) UTILITY OF THE MULTIVARIATE APPROACH IN PREDICTING beta-THALASSEMIA INTERMEDIA OR beta-THALASSEMIA MAJOR TYPES IN IRANIAN PATIENTS. HEMOGLOBIN. pp. 413-422.

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Abstract

Recently, five genetic modifiers beta-globin mutations, coinheritance of alpha-thalassemia (alpha-thal), XmnI polymorphism and single nucleotide polymorphisms (SNPs) in the BCL11A and HBS1L-MYB loci] were used to predict the beta-thal major (beta-TM) or beta-thal intermedia (beta-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 beta-thal patients having distinct beta-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 beta-TM/beta-TI types using three scenarios: 1) when considering only the severe beta-TM and the mild beta-TI cases, 2) using clinical parameters for beta-thal typing, and 3) using age at first transfusion as the basis for classification. Using these scenarios, the beta-thal types could be correctly predicted in 77.6, 75.5 and 68.0% of cases, respectively.

Item Type: Article
Keywords: Author Keywords:beta-Thalassemia major (beta-TM); beta-Thalassemia intermedia (beta-TI); beta-Thalassemia (beta-thal); XmnI Polymorphism; BCL11A; Phenotype-genotype KeyWords Plus:FETAL-HEMOGLOBIN LEVELS; GENOME-WIDE ASSOCIATION; GENETIC MODIFIERS; BCL11A; PHENOTYPE; DISEASE; POLYMORPHISMS; MUTATIONS; GENOTYPE; ADULTS
Page Range: pp. 413-422
Journal or Publication Title: HEMOGLOBIN
Abstract and Indexing: ISI, Scopus
Quartile : Q4
Volume: 37
Number: 5
Publisher: web of science
Depositing User: خانم مریم زرقانی
URI: http://repository.zums.ac.ir/id/eprint/1750

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