Utility of the multivariate approach in predicting β-thalassemia intermedia or β-thalassemia major types In Iranian patients

Hemoglobin. 2013;37(5):413-22. doi: 10.3109/03630269.2013.805418. Epub 2013 Jun 27.

Abstract

Recently, five genetic modifiers [β-globin mutations, coinheritance of α-thalassemia (α-thal), XmnI polymorphism and single nucleotide polymorphisms (SNPs) in the BCL11A and HBS1L-MYB 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.

MeSH terms

  • Adult
  • Binding Sites / genetics
  • Carrier Proteins / genetics
  • Cohort Studies
  • DNA, Intergenic / genetics
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • Female
  • GTP-Binding Proteins / genetics
  • Gene Frequency
  • Genotype
  • HSP70 Heat-Shock Proteins / genetics
  • Humans
  • Iran
  • Male
  • Multivariate Analysis*
  • Mutation
  • Nuclear Proteins / genetics
  • Peptide Elongation Factors / genetics
  • Polymorphism, Single Nucleotide
  • Prognosis
  • Proto-Oncogene Proteins c-myb / genetics
  • Regression Analysis*
  • Repressor Proteins
  • Sensitivity and Specificity
  • Young Adult
  • beta-Globins / genetics
  • beta-Thalassemia / classification
  • beta-Thalassemia / diagnosis*
  • beta-Thalassemia / genetics*

Substances

  • BCL11A protein, human
  • Carrier Proteins
  • DNA, Intergenic
  • HSP70 Heat-Shock Proteins
  • Nuclear Proteins
  • Peptide Elongation Factors
  • Proto-Oncogene Proteins c-myb
  • Repressor Proteins
  • beta-Globins
  • endodeoxyribonuclease XmnI
  • Deoxyribonucleases, Type II Site-Specific
  • GTP-Binding Proteins
  • HBS1L protein, human