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Table 3 β globin mutations identified in 117 patients with TI phenotype.

From: The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity

Mutation Type of thal Location No. of Chr. Total (%)
    Type I Type II  
-28 (A→G) β+ 5'UTR 42 1 43(20.1%)
CD 41-42(-CTTT) β0 Exon 39 3 42(19.6%)
CD 17 (A→T) β0 Exon 29 5 34(15.9%)
CD 26 (G→A) Hb E Exon 27 0 27(12.6%)
IVS-2-654 (C→T) β0 Intron 12 8 20(9.3%)
IVS-2-5 (G→C) β+ Intron 11 0 11(5.1%)
CD 71/72 (+A) β0 Exon 6 2 8(3.7%)
SEA-HPFH HPFH   7 0 7(3.3%)
IVS-1-1 (G→T) β0 Intron 5 0 5(2. 3%)
-29(A→G) β+ 5'UTR 5 0 5(2.3%)
Chinese Gγ+(Aγδβ)0 δβ thal   4 0 4(1.9%)
CD 43 (G→T) β0 Exon 2 0 2(0.9%)
-73(A→T) β+ 5'UTR 1 0 1(0.5%)
Term CD +32(A→C)1 β+ 3'UTR 1 0 1(0.5%)
Cap+39 (C→T)2 β++ 5'UTR 1 0 1(0.5%)
CD 15/16 (+G) β0 Exon 1 0 1(0.5%)
CD 27/28(+C) β0 Exon 1 0 1(0.5%)
CD 53(-T) βdominant Exon 0 1 1(0.5%)
Total number of chromosomes 194 20 214(100%)
  1. 1,2 Novel mutations found in this study.