title: [Detection of beta thalassemia by the technique of refractory amplification of mutation systems (ARMS-PCR)].
abstract: beta Thalassemia (Thal) mutations were studied in DNA from 80/159 patients with hemolytic anemia and high levels of Hb A2 by the amplification refractory mutation system technique (ARMS-PCR). This method detects point mutations and insertions or deletions of just a few nucleotides in the beta globin gene by the polymerase chain reaction of allele-specific priming. In 43/80 patients with different clinical presentations of beta Thalassemia and 37/80 compound heterozygous for hemoglobinopathies and beta Thalassemia the most frequent mutation found was the -29 (of African origin), followed by the CD39 (of Mediterranean origin) and in a lower frequency also was found the -88, the IVSI-6 and the IVSI-110. We conclude that this technique is an useful approach in determining the beta thalassemia mutations in population surveys, because it allows to make a differential diagnosis between beta Thalassemia minor and individuals with high levels of Hb A2. It helps to clarify the diagnosis of patients with structural hemoglobinopathies that also presents high levels of Hb A2.
authors.affiliation: Laboratorio de Hemoglobinas Anormales, Dr. Tulio Arends Hospital Universitario de Caracas, Venezuela.
authors.forename: M
authors.initials: M
authors.lastname: Bravo
authors.forename: R
authors.initials: R
authors.lastname: Salazar
authors.forename: A
authors.initials: A
authors.lastname: Arends
authors.forename: M
authors.initials: M
authors.lastname: Alvarez
authors.forename: D
authors.initials: D
authors.lastname: Velázquez
authors.forename: J M
authors.initials: JM
authors.lastname: Guevara
authors.forename: O
authors.initials: O
authors.lastname: Castillo
mesh_terms: D001483:Base Sequence; D003937:Diagnosis, Differential; D004587:Electrophoresis, Agar Gel; D005914:Globins / Q000235:genetics; D006443:Hemoglobin A2 / Q000235:genetics; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics
chemical_list: D005914:Globins; D006443:Hemoglobin A2