Molecular identification of Sicilian (deltabeta) degrees-thalassemia associated with beta-thalassemia and hemoglobin S in Brazil.
We describe the clinical and molecular characteristics of two unrelated Brazilian families with an association of the Sicilian form of (deltabeta) degrees -thalassemia with hemoglobin S and beta-thalassemia. Direct sequencing of the beta-globin gene showed only the hemoglobin S mutation in patient 1 and the beta-thalassemia IVS1-110 in patient 2. The other allele was deleted in both patients and PCR of DNA samples of the breakpoint region of both patients showed a band of approximately 1,150 bp, expected to be observed in the DNA of carriers of Sicilian (deltabeta) degrees -thalassemia. The nucleotide sequence of this fragment confirmed the Sicilian deletion. There are few reports concerning the Hb S/(deltabeta) degrees -thalassemia association and patient 2 is the first reported case of Sicilian type of (deltabeta) degrees -thalassemia in association with beta-thalassemia documented at the molecular level.
de Andrade
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TG
Departamento de Clínica Médica, Hemocentro, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brasil.
Fattori
A
A
Saad
S T O
ST
Sonati
M F
MF
Costa
F F
FF
D000328:Adult; D000595:Amino Acid Sequence; D001938:Brazil; D004252:DNA Mutational Analysis; D005260:Female; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D006451:Hemoglobin, Sickle