A promoter mutation, C --> T at position -- 92, leading to silent beta-thalassaemia

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Abstract

Summary

This study describes the clinical phenotype of the C --> T mutation at position - 92 of the beta-globin gene. Excluding two cases with HbA2 levels within the range of the beta-thalassaemia carrier state, heterozygotes for this mutation showed normal or borderline red blood cells count, Hb levels, MCV, MCH and HbA2 values, and unbalanced globin chain synthesis. Compound heterozygotes for the - 92 C --> T mutation and a beta degrees thalassaemia mutation (beta degrees 39) (two cases) or severe beta sup + -thalassaemia (beta sup + IVSII nt 745) (two cases) developed thalassaemia intermedia. According to these characteristics, the - 92 promoter mutation should be added to the list of silent beta-thalassaemias.

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