| Registro completo |
| Provedor de dados: |
BJMBR
|
| País: |
Brazil
|
| Título: |
Molecular identification of Sicilian (dß)º-thalassemia associated with ß-thalassemia and hemoglobin S in Brazil
|
| Autores: |
Andrade,T.G. de
Fattori,A.
Saad,S.T.O.
Sonati,M.F.
Costa,F.F.
|
| Data: |
2002-08-01
|
| Ano: |
2002
|
| Palavras-chave: |
Thalassemia
Sickle cell
Hereditary persistence of fetal hemoglobin
Globin genes
Sicilian thalassemia
|
| Resumo: |
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.
|
| Tipo: |
Info:eu-repo/semantics/other
|
| Idioma: |
Inglês
|
| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000800003
|
| Editor: |
Associação Brasileira de Divulgação Científica
|
| Relação: |
10.1590/S0100-879X2002000800003
|
| Formato: |
text/html
|
| Fonte: |
Brazilian Journal of Medical and Biological Research v.35 n.8 2002
|
| Direitos: |
info:eu-repo/semantics/openAccess
|
