Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/76801
Type: Artigo de periódico
Title: 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
Author: Bezerra, MAC
Albuquerque, DM
Santos, MNN
Kimura, EM
Jorge, SEDC
Oliveira, DM
Domingues, BLTB
Peres, JC
Araujo, AS
Costa, FF
Sonati, MF
Abstract: We 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.
Subject: haemoglobinopathies
haemolytic anaemia
unstable haemoglobins
beta-globin variants
thalassaemia intermedia
germ line mutation
de novo mutation
Country: EUA
Editor: Wiley-blackwell Publishing, Inc
Rights: fechado
Identifier DOI: 10.1111/j.1600-0609.2009.01296.x
Date Issue: 2009
Appears in Collections:Unicamp - Artigos e Outros Documentos

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