Brazilian Journal of Medical and Biological Research | |
Molecular identification of Sicilian (dß)º-thalassemia associated with ß-thalassemia and hemoglobin S in Brazil | |
F.F. Costa1  S.T.O. Saad1  M.F. Sonati1  A. Fattori1  T.G. de Andrade1  | |
[1] Universidade Estadual de Campinas; | |
关键词: Thalassemia; Sickle cell; Hereditary persistence of fetal hemoglobin; Globin genes; Sicilian thalassemia; | |
DOI : 10.1590/S0100-879X2002000800003 | |
来源: DOAJ |
【 摘 要 】
We describe the clinical and molecular characteristics of two unrelated Brazilian families with an association of the Sicilian form of (dß)º-thalassemia with hemoglobin S and ß-thalassemia. Direct sequencing of the ß-globin gene showed only the hemoglobin S mutation in patient 1 and the ß-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 (dß)º-thalassemia. The nucleotide sequence of this fragment confirmed the Sicilian deletion. There are few reports concerning the Hb S/(dß)º-thalassemia association and patient 2 is the first reported case of Sicilian type of (dß)º-thalassemia in association with ß-thalassemia documented at the molecular level.
【 授权许可】
Unknown