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 |
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| Authors: | Marcos A. C. Bezerra Dulcinéia M. Albuquerque Magnun N. N. Santos Elza M. Kimura Susan E. D. C. Jorge Denise M. Oliveira Betânia L. T. B. Domingues Jaqueline C. Peres Aderson S. Araújo Fernando F. Costa Maria F. Sonati |
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| Affiliation: | 1. Haematology and Haemotherapy Centre of Pernambuco‐HEMOPE, Recife, Pernambuco, Brazil;2. Haematology and Haemotherapy Centre, State University of Campinas‐UNICAMP, Campinas, S?o Paulo, Brazil;3. Department of Clinical Pathology, School of Medical Sciences, State University of Campinas‐UNICAMP, Campinas, S?o Paulo, Brazil |
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| 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 (TT C→TC C), 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. |
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| Keywords: | haemoglobinopathies haemolytic anaemia unstable haemoglobins beta‐globin variants thalassaemia intermedia germ line mutation de novo mutation |
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