The spectrum of β-thalassemia mutations in Azerbaijan

The human hereditary syndrome of beta -thalassemia is a very heterogeneous disorder being caused by over 90 different defects in the beta -globin gene, various ethnic groups or populations having their own characteristic spectra of the mutations. Among regions seriously affected by beta -thalassemia, one of the largest is in Azerbaijan, with the occurrence of the mutated genes up to 10%. Earlier studies of the molecular lesions causing beta -thalassemia in Azerbaijan revealed four mutations in the beta -globin gene region: G arrow right A transition in position 110 of the first intron, IVS 1-110, AA deletion in codon 8, frameshift 8, C arrow right T transition in codon 39 (nonsense mutation), codon 39, and the previously unknown G deletion in codons 82/83, frameshift 82/83. We describe a wider spectrum of molecular defects (including two novel ones) in the beta -globin gene between the TATA-box and second intron, causing beta -thalassemia in Azerbaijan.