Molecular identification of Sicilian (deltaß)º-thalassemia associated with ß-thalassemia and hemoglobin S in Brazil
Braz. j. med. biol. res
;
35(8): 873-876, Aug. 2002. ilus, tab
Artigo
em Inglês
| LILACS
| ID: lil-325540
ABSTRACT
We describe the clinical and molecular characteristics of two unrelated Brazilian families with an association of the Sicilian form of (deltaß)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 (deltaß)º-thalassemia. The nucleotide sequence of this fragment confirmed the Sicilian deletion. There are few reports concerning the Hb S/(deltaß)º-thalassemia association and patient 2 is the first reported case of Sicilian type of (deltaß)º-thalassemia in association with ß-thalassemia documented at the molecular level
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Hemoglobina Falciforme
/
Talassemia beta
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
/
Fatores de risco
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
América do Sul
/
Brasil
Idioma:
Inglês
Revista:
Braz. j. med. biol. res
Assunto da revista:
Biologia
/
Medicina
Ano de publicação:
2002
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Universidade Estadual de Campinas/BR
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