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Table 1 List of the common α- and β-globin gene mutations identified in samples with borderline Hb A2 levels

From: Problem of borderline hemoglobin A2 levels in an Iranian population with a high prevalence of α- and β-thalassemia carriers

Mutation name HGVS name Type Allele frequency (%)
α-Globin gene mutations
 –α 3.7 NG_000006.1: g.34164_73967del13804 α-thal del 107 (62.57)
 PolyA2 (AATAAA>AATGAA) HBA2: c.*92A>G α-thal 14 (8.19)
 Codon 59 (GGC>GAC) (Adana) HBA1: c.179G>A Variant/α1-thal 12 (7.02)
 –α4.2 NA α-thal del 10 (5.85)
 IVS-I-1 (–5 nt)a HBA2: c.95+2_95+6delTGAGG α-thal-2 10 (5.85)
 αα/αααAnti-3.7 NA α-thal 5 (2.92)
 PolyA1 (AATAA > AATAAG) (αT-Saudi) HBA2: c.*94A > G α-thal-2 4 (2.34)
 –MED I NG_000006.1: g.24664_41064del α-thal del 4 (2.34)
 Other    5 (2.92)
 Total    171 (100)
β-Globin gene mutations
 Hb D-Punjab HBB: c.364G>C Hb variant 48 (21.92)
 IVS-II-1 (G>A) HBB: c.315+1G>A β0 37 (16.89)
 IVS-I-6 (T>C) HBB: c.92+6T>C β+ 30 (13.70)
 Codons 8/9 (+G) HBB: c.27_28insG β0 17 (7.76)
 IVS-I-110 (G>A) HBB: c.93-21G>A β+ 16 (7.31)
 –101 (C>T) HBB: c.-151C>T β+ 10 (4.57)
 Hb Ernz HBB: c.371C>A Hb variant 9 (4.11)
 IVS-I-128 (T>G) HBB: c.93-3T>G β+ 8 (3.65)
 Codons 36/37 (–T) HBB: c.112delT β0 7 (3.20)
 IVS-I-1 (G>A) HBB: c.92+1G>A β0 5 (2.28)
 Codons 82/83 (–G) HBB: c.250delG β0 4 (1.83)
 Other    32 (14.61)
 Total    219 (100)
  1. aIVS-I-1 (–5 nt): GAGGTGAGG>GAGG– – – – –