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Molecular characterization of β‐thalassemia genes in an Argentine population
Author(s) -
Roldán Ariel,
Gutiérrez Marina,
Cygler Ana,
Bonduel Mariana,
Sciuccati Gabriela,
Torres Aurora Feliu
Publication year - 1997
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/(sici)1096-8652(199703)54:3<179::aid-ajh1>3.0.co;2-t
Subject(s) - thalassemia , genetics , allele , restriction enzyme , prenatal diagnosis , population , southern blot , hemoglobinopathy , biology , gene , medicine , hemolytic anemia , immunology , environmental health , pregnancy , fetus
Abstract This study was designed to identity the β‐thalassemia mutations in an Argentine population. Seventy‐one pediatric patients and 101 available relatives were studied (85 chromosomes). Diagnosis of β‐thalassemia was made by conventional hematological procedures. Molecular studies were carried out by dot‐blot and restriction endonuclease analysis on amplified DNA to detect the eight most frequent mutations in the Mediterranean area. We were able to identify 95.3% of the β‐thalassemia mutations in the subjects under study. The four common defects (C‐39, 47%; IVS‐I nt 110, 22.4%; IVS‐I nt 1, 9.4%; and IVS‐I nt 6, 5.9%) account for 84.7% of the β‐thalassemia alleles. The alleles and their distributions showed a close similarity to the spectrum of alleles in Italy. The differences might represent the influence of other immigrations, especially from Spain. We conclude that β‐thalassemia in Argentina originated mainly from Italian immigrants. This study will enable us to design an adequate approach to genetic counseling and/or prenatal diagnosis for couples at risk. Am. J. Hematol. 54:179–182, 1997 © 1997 Wiley‐Liss, Inc.