Two new unstable haemoglobins leading to chronic haemolytic anaemia: Hb Caruaru [beta 122 (GH5) Phe -> Ser], a probable case of germ line mutation, and Hb Olinda [beta 22 (B4)-25 (B7)], a deletion of a 12 base-pair sequence

dc.creatorBezerra, MAC
dc.creatorAlbuquerque, DM
dc.creatorSantos, MNN
dc.creatorKimura, EM
dc.creatorJorge, SEDC
dc.creatorOliveira, DM
dc.creatorDomingues, BLTB
dc.creatorPeres, JC
dc.creatorAraujo, AS
dc.creatorCosta, FF
dc.creatorSonati, MF
dc.date2009
dc.dateOCT
dc.date2014-11-15T10:11:09Z
dc.date2015-11-26T16:10:31Z
dc.date2014-11-15T10:11:09Z
dc.date2015-11-26T16:10:31Z
dc.date.accessioned2018-03-28T22:59:08Z
dc.date.available2018-03-28T22:59:08Z
dc.identifierEuropean Journal Of Haematology. Wiley-blackwell Publishing, Inc, v. 83, n. 4, n. 378, n. 382, 2009.
dc.identifier0902-4441
dc.identifierWOS:000269742400013
dc.identifier10.1111/j.1600-0609.2009.01296.x
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/76801
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/76801
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/76801
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1266894
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionWe describe here two new unstable beta-globin variants, Hb Caruaru and Hb Olinda, found in northeastern Brazil, both associated with chronic haemolytic anaemia. Haemoglobin Caruaru is caused by a single base substitution at codon 122 (TTC -> TCC), possibly originating from the germ line cells of the patient's grandmother. Haemoglobin Olinda is also a de novo mutation, caused by a 12 bp deletion leading to the removal of the 22nd to the 25th residues of the normal beta-globin chain.
dc.description83
dc.description4
dc.description378
dc.description382
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionFAPESP [02/13801-7]
dc.descriptionCNPq [408884/2006-1]
dc.languageen
dc.publisherWiley-blackwell Publishing, Inc
dc.publisherMalden
dc.publisherEUA
dc.relationEuropean Journal Of Haematology
dc.relationEur. J. Haematol.
dc.rightsfechado
dc.rightshttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.sourceWeb of Science
dc.subjecthaemoglobinopathies
dc.subjecthaemolytic anaemia
dc.subjectunstable haemoglobins
dc.subjectbeta-globin variants
dc.subjectthalassaemia intermedia
dc.subjectgerm line mutation
dc.subjectde novo mutation
dc.subjectGlobin Gene-cluster
dc.subjectAlpha-thalassemia
dc.subjectSubstitution
dc.subjectDeterminants
dc.subjectOxygen
dc.subjectBp
dc.titleTwo new unstable haemoglobins leading to chronic haemolytic anaemia: Hb Caruaru [beta 122 (GH5) Phe -> Ser], a probable case of germ line mutation, and Hb Olinda [beta 22 (B4)-25 (B7)], a deletion of a 12 base-pair sequence
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución