Alpha thalassemia is the most common genetic disease in the world with the prevalence of
carriers ranging from 5-50% in several populations. Coinheritance of two defective α-globin …

Aims Alpha (α) thalassaemia may be caused by large deletions of the a globin gene (s), or
rarely, non-deletional mutations. Both types of mutations may co-exist, and if located on the …

While point mutations affecting the promoter region of (β-globin gene are widely described,
there are no well characterised reports of any point mutations currently found in the promoter …

The identification of α-thalassemia (α-thal) due to point mutations has been increasing
significantly with the advancement of molecular diagnostic tools. We describe here the …

In recent years, the identification of α-thalassemias caused by nondeletional mutations has
increased significantly due to the advancement of sensitive molecular genetics tools. We …

Abstract α-Thalassemia (α-thal) is a common genetic disorder in Iran and many parts of the
world. Genetic defects on the α-globin gene cluster can result in α-thal that may develop a …

In this study, we describe the clinical features and provide experimental analyses of a novel
point mutation affecting the penultimate nucleotide of the first exon of the HBA2 (HBA2: c …

Nondeletional α-globin mutations are known to cause more serious clinical effects than
deletional ones. A rare IVS-I-1 (G> A)(HBA2: c. 95+ 1G> A) donor splice site mutation …

Abstract [Truncated] The alpha (α) thalassemias are a group of disorders occurring as a
result of decreased synthesis of α-globin chains due to deletions of α-globin genes or, less …