BACKGROUND: alpha thalassemias are very common in all thalassemic areas; however, complete knowledge of the phenotypic, genotypic and epidemiological features of these thalassemias has not yet been achieved for a number of reasons: the frequent absence of a thalassemic hematologic picture, the lack of a specific characteristic comparable to the Hb A2 increase for beta thalassemias, and the almost complete homology between the two alpha genes. METHODS AND RESULTS: A new set of PCR techniques, each based on primer(s) specific for a particular type of alpha globin gene disorder, has been devised in our laboratory. The procedures are simple, and non-radioactive. They lead to the identification of all alpha globin disorders common in the Mediterranean area [-alpha 3.7, -alpha 4.2, alpha Hphl, alpha Ncol, --MED, -(alpha)20.5, alpha alpha alpha anti3.7]. The electrophoretic patterns specific for the main alpha globin alterations as observed with this set of techniques, are presented. CONCLUSIONS: Owing to their advantageous properties, these techniques are suitable for precise molecular characterization of the numerous subjects selected through mass population screenings.
BACKGROUND: alpha thalassemias are very common in all thalassemic areas; however, complete knowledge of the phenotypic, genotypic and epidemiological features of these thalassemias has not yet been achieved for a number of reasons: the frequent absence of a thalassemic hematologic picture, the lack of a specific characteristic comparable to the Hb A2 increase for beta thalassemias, and the almost complete homology between the two alpha genes. METHODS AND RESULTS: A new set of PCR techniques, each based on primer(s) specific for a particular type of alpha globin gene disorder, has been devised in our laboratory. The procedures are simple, and non-radioactive. They lead to the identification of all alpha globin disorders common in the Mediterranean area [-alpha 3.7, -alpha 4.2, alpha Hphl, alpha Ncol, --MED, -(alpha)20.5, alpha alpha alpha anti3.7]. The electrophoretic patterns specific for the main alpha globin alterations as observed with this set of techniques, are presented. CONCLUSIONS: Owing to their advantageous properties, these techniques are suitable for precise molecular characterization of the numerous subjects selected through mass population screenings.
Authors: Sandrine C Wagner; Simone M de Castro; Tatiana P Gonzalez; Ana P Santin; Leticia Filippon; Carina F Zaleski; Laura A Azevedo; Bruna Amorin; Sidia M Callegari-Jacques; Mara H Hutz Journal: Genet Mol Biol Date: 2010-12-01 Impact factor: 1.771
Authors: Ana María Soler; Bruna Facanali Piellusch; Lorena da Silveira; Gisele Audrei Pedroso; Pablo López; Enrique Savio; María de Fatima Sonati; Julio da Luz Journal: Genet Mol Biol Date: 2021-03-26 Impact factor: 1.771
Authors: Julio Da Luz; Amalia Avila; Sandra Icasuriaga; María Gongóra; Luis Castillo; Alejandra Serrón; Elza Miyuki Kimura; Fernando Ferreira Costa; Mónica Sans; Maria de Fátima Sonati Journal: Genet Mol Biol Date: 2013-07-19 Impact factor: 1.771