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Type: Artigo de periódico
Title: Two New Unstable Haemoglobins Leading To Chronic Haemolytic Anaemia: Hb Caruaru [β122 (gh5) Phe→ser], A Probable Case Of Germ Line Mutation, And Hb Olinda [β22 (b4) - 25 (b7)], A Deletion Of A 12 Base-pair Sequence
Author: Bezerra M.A.C.
Albuquerque D.M.
Santos M.N.N.
Kimura E.M.
Jorge S.E.D.C.
Oliveira D.M.
Domingues B.L.T.B.
Peres J.C.
Araujo A.S.
Costa F.F.
Sonati M.F.
Abstract: We describe here two new unstable β-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 β-globin chain. © 2009 John Wiley & Sons A/S.
Citation: European Journal Of Haematology. , v. 83, n. 4, p. 378 - 382, 2009.
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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