Article
Multi-allele DNA biosensor for the rapid genotyping of 'nondeletion' alpha thalassaemia mutations in HBA1 and HBA2 genes by means of multiplex primer extension reaction.
Clinica chimica acta; international journal of clinical chemistry - 15 Jun 2015
Petropoulou Margarita, Poula Amalia, Traeger-Synodinos Jan, Kanavakis Emmanuel, Christopoulos Theodore K, Ioannou Penelope C
Abstract excerpt
BACKGROUND: Alpha-thalassaemia is an autosomal recessive disorder characterized by defective production of the alpha chain of haemoglobin. It is caused mainly by deletions of one or both of the duplicated alpha-globin genes on chromosome 16, and/or by nucleotide variations, known as "nondeletion" mutations. Definition of the alpha globin genotype in carriers supports genetic counselling, and in patients with Hb H...
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