Beta-thalassemia intermedia and IVS-1 NT6 homozygosis in Brazil.
1. The molecular abnormality of a patient with thalassemia intermedia was identified by DNA amplification (PCR) combined with the use of synthetic oligonucleotide probes. 2. The patient is a homozygote for the T----C substitution at position 6 of the first intervening sequence (IVS1-6) of the beta globin gene. 3. On the basis of this finding, the family, which had been previously reported by us to be a carrier of an unusually mild beta-thalassemia gene, was actually the first example reported of the clinical and biochemical features of beta-thalassemia-Portuguese type.
Costa
F F
FF
Departamento de Clínica Médica, Faculdade de Medicina, Universidade de São Paulo, Brasil.
Tavella
M H
MH
Zago
M A
MA
D000328:Adult; D001483:Base Sequence; D001938:Brazil; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D013789:Thalassemia / Q000235:genetics*
D015345:Oligonucleotide Probes