Article
A new beta-thalassemia mutation produced by a single nucleotide substitution in the conserved dinucleotide sequence of the IVS-I consensus acceptor site (AG----AA).
Hemoglobin - 1 Jan 1990
Deidda G, Novelletto A, Hafez M, al-Tonbary Y, Felicetti L, Terrenato L, Colombo B
Abstract excerpt
An Egyptian child with thalassemia major was found to carry two different haplotypes (I and VI) associated with two beta-thalassemic chromosomes. Analysis with several oligonucleotides and restriction enzymes, which identify the mutations most common in the Mediterranean area, allowed the identification of only one mutation, namely T----C at position 6 of the first intervening sequence (IVS-I). In order to...
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