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Two new unstable haemoglobins leading to chronic haemolytic anaemia: Hb Caruaru [beta122 (GH5) Phe-->Ser], a probable case of germ line mutation, and Hb Olinda [beta22 (B4) - 25 (B7)], a deletion of a 12 base-pair sequence.

Authors :
Bezerra MA
Albuquerque DM
Santos MN
Kimura EM
Jorge SE
Oliveira DM
Domingues BL
Peres JC
Araújo AS
Costa FF
Sonati MF
Source :
European journal of haematology [Eur J Haematol] 2009 Oct; Vol. 83 (4), pp. 378-82. Date of Electronic Publication: 2009 Jun 10.
Publication Year :
2009

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.

Details

Language :
English
ISSN :
1600-0609
Volume :
83
Issue :
4
Database :
MEDLINE
Journal :
European journal of haematology
Publication Type :
Academic Journal
Accession number :
19527272
Full Text :
https://doi.org/10.1111/j.1600-0609.2009.01296.x