MOLECULAR TESTING OF COMBINED FORMS OF β-THALASSEMIA AND G6FD FERMENT DEFICIT AMONG THE PEOPLE OF AZERBAIJAN
Abstract
The molecular testing of genomic DNA from sick people with the combination of β-thalassemia and glucose- 6-phosphate dehydrogenase (G6FD) deficit made it possible to identify two well-known Mediterranean molecular types of ferment: G6FD - B (-) 563 C - T and G6FDA (-) 376 A - G 202 G - A in combination with mutation of β-globin gene, i.e., β0 - IVS - 2 - 1 G - A. The modern exposure of β-thalassemia carriers and the hemizygote carriage of G6FD deficit and also their combined forms with establishing of mutations' genotypes will enable the specialists later to conduct the qualified treatment of clinical manifestation and the prophylaxis of illness in the form of medical and genetic consulting, including prenatal diagnostics of anaemia.
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