MOLECULAR-IDENTIFICATION of HEREDITARY PERSISTENCE of FETAL HEMOGLOBIN TYPE-2 (HPFH TYPE-2) in PATIENTS FROM BRAZIL

MOLECULAR-IDENTIFICATION of HEREDITARY PERSISTENCE of FETAL HEMOGLOBIN TYPE-2 (HPFH TYPE-2) in PATIENTS FROM BRAZIL

Autor Goncalves, M. S. Google Scholar
Fahel, S. Google Scholar
Figueiredo, M. S. Google Scholar
Kimura, E. J. Google Scholar
Nechtman, F. Google Scholar
Stoming, T. A. Google Scholar
Arruda, V. R. Google Scholar
Saad, STO Google Scholar
Costa, F. F. Google Scholar
Instituição Universidade Estadual de Campinas (UNICAMP)
FED UNIV SALVADOR
Universidade Federal de São Paulo (UNIFESP)
MED COLL GEORGIA
Resumo The HPFH deletion type 2 was first described in a patient from Ghana and is characterized by a large deletion of approximately 105 kb extension. We report here the results obtained in studying a black Brazilian patient who presented an association of beta-thalassemia and HPFH type 2, using a PCR strategy for detection of the breakpoint region. This procedure allows a rapid molecular identification of this condition and is a reliable procedure for screening patients with a hematological picture of HPFH deletion types.
Palavra-chave FETAL HEMOGLOBIN
THALASSEMIA
GLOBIN GENES
Idioma Inglês
Data de publicação 1995-03-01
Publicado em Annals of Hematology. New York: Springer Verlag, v. 70, n. 3, p. 159-161, 1995.
ISSN 0939-5555 (Sherpa/Romeo, fator de impacto)
Publicador Springer
Extensão 159-161
Fonte http://dx.doi.org/10.1007/BF01682037
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:A1995QR57100008
Endereço permanente http://repositorio.unifesp.br/handle/11600/25467

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