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Table 1 β-Globin gene mutations detected in Palestinian β-thalassemia intermedia patients. Allele frequencies were calculated based on 102 chromosomes from 51 patients

From: Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine

Mutation Nt. Substitution Type of mutation HGVS nomenclature Allele frequency (%)a
IVS-I-6 T > C β+ HBB:c.92 + 6 T > C 76.5
IVS-I-1 G > A β0 HBB:c.92 + 1G > A 2.0
IVS-I-110 G > A β+ HBB:c.93-21G > A 7.8
Codon 37 TGG > TGA β0 HBB:c.114G > A 3.0
IVS-II-1 G > A β0 HBB:c.315 + 1G > A 6.9
IVS-II-848 C > A β+ HBB:c.316-3C > A 1.0
Beta −101 C > T β++ HBB:c.-151C > T 2.0
  1. aThe wild type allele (βwt) is present in one case from 51 patients and is not shown in the above table, making the sum of allele frequency 99.2 rather 100