Beta-Thalassemia and Hemoglobin types in Argentina: Determination of most frequent mutations

NÉSTOR W. SORIA; CLARA L. TULIAN; FRANÇOIS PLASSA; GERMAN A. ROTH

AMERICAN JOURNAL OF HEMATOLOGY

Wiley-Liss

Año: 1997 vol. 54 p. 160 - 160

0361-8609

b> In order to know the spectrum of b-thalassemia alleles and other mutations affecting the b-globin gene, we analyzed the hemoglobin abnormalities in 24 patients from the Province of Cordoba in Argentina. Molecular screening of samples was performed by the polymerase chain reaction (PCR), using six sets of oligonucleotides to amplify fragments encompassing the whole b-globin coding region and splice junctions, as well as the promoter and 39 untranslated regions. The altered fragments were determined by denaturing gradient gel electrophoresis (DGGE), and the corresponding mutations were identifi