Molecular characterization of β‐globin gene mutations in patients with β‐thalassaemia intermedia in South China

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Abstract
We have studied the spectrum of mutations producting β‐thalassaemia intermedia in South China. The methods of mutation detection include oligonucleotide analysis, polymerase chain reaction amplification of the β‐globin gene and direct genomic sequencing. The mutations have been identified in 22 β‐globin genes from the patients in 11 unrelated families. Seven different mutations have been identified and the A to G substitution in the TATA box of the β‐globin gene accounts for 42% of these mutant β‐globin genes. Most patients have a β+ thalassaemia and one copy of the TATA box mutation. In two patients with β) thalassaemia intermedia the mild phenotype may be explained in one by the presence of the ‐ + ‐ + + 5’β‐globin gene cluster haplotype which contains the Xmn I site ‐158 nt to the Gγ‐globin gene or in the other by the number of α‐globin genes present.