Brazilian Journal of Medical and Biological Research | |
Molecular identification of Sicilian (dß)º-thalassemia associated with ß-thalassemia and hemoglobin S in Brazil | |
T.g. De Andrade1  A. Fattori1  S.t.o. Saad1  M.f. Sonati2  F.f. Costa1  | |
[1] ,Universidade Estadual de Campinas Faculdade de Ciências Médicas Departamento de Clínica Médica, Hemocentro | |
关键词: Thalassemia; Sickle cell; Hereditary persistence of fetal hemoglobin; Globin genes; Sicilian thalassemia; | |
DOI : 10.1590/S0100-879X2002000800003 | |
来源: SciELO | |
【 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】
CC BY
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