Comprehensive spectrum of the β-Thalassemia mutations in Khuzestan, southwest Iran.

β-Thalassemia (β-thal) is characterized by reduction or absence of β-globin gene expression. We describe the spectrum of mutations observed in a large cohort of β-thal carriers in Khuzestan, Southwest Iran. All together 1,241 blood samples from individuals with decreased mean corpuscular volume (MCV) and elevated Hb A(2) levels, were analyzed either by reverse dot-blot or by direct sequencing of the HBB gene.