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

Brazilian Journal of Medical and Biological Research

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