Abstract
α-thalassaemia is an autosomal recessive disorder, in which there is impaired production of the a-globin chains of haemoglobin. It is associated with microcytic hypochromic anaemia, and a clinical phenotype varying from almost asymptomatic to a lethal haemolytic anaemia. It is probably the most common single gene disorder worldwide, and is especially frequent in populations originating from the Mediterranean region, SE Asia, Africa, Middle East and Indian subcontinent.
Highlights
The synthesis of a-globin chains is directed by the duplicated a-gloanaemia
Many less common and rare a0 thalassemia deletion determinants extend beyond the a-gene cluster to include the flanking genes
Molecular studies have supported the elucidation of the normal lassemia is associated with developmental abnormalities structure and variation of the most telomeric region of chromosome and mental retardation - a syndrome known as ATR-16
Summary
The synthesis of a-globin chains is directed by the duplicated a-gloanaemia. It is probably the most common single gene disorder worldwide, and is especially frequent in populations originating from the ly Mediterranean region, SE Asia, Africa, Middle East and Indian subconn tinent. se o Introduction l u This presentation will give an overview on two main aspects of the ia molecular basis of -thalassaemia: i) the molecular basis of common forms of a-thalassaemia, which provides information for clinical applic cations, including definitive diagnosis of patients and carriers, patient r management, family counseling and prevention; ii) rare and sporadic e molecular defects associated with a-thalassaemia, which potentially m support a deeper understanding of the regulation of globin gene expression, many aspects of which are potentially applicable to m comprehending the molecular genetics of many other human diseases, o too. The majority of most common a thalassemia determinants are due to deletions that remove part, or all, of the globin gene cluster. The most common a thalassemia mutations are a+ thalassemia deletions which leave a single functional a globin gene on the chromosome, removing either 3.7kb or 4.2kb (–a3.7 or –a4.2, respectively).
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