Molecular identification of Sicilian (dß)º-thalassemia associated with ß-thalassemia and hemoglobin S in Brazil

Molecular identification of Sicilian (<FONT FACE=Symbol>dß)º-thalassemia associated with ß-thalassemia and hemoglobin S in Brazil</FONT>

Brazilian Journal of Medical and Biological Research, August 2002

12185378

T.G. de Andrade, A. Fattori, S.T.O. Saad, M.F. Sonati, F.F. Costa

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.