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BIBTEX RIS

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

2009; Wiley; Volume: 83; Issue: 4 Linguagem: Inglês

10.1111/j.1600-0609.2009.01296.x

ISSN

1600-0609

Autores

Marcos André Cavalcanti Bezerra, Dulcinéia Martins de Albuquerque, Magnun Nueldo Nunes Santos, Elza Kimura, Susan E. Jorge, Denise M. Oliveira, Betânia Lucena Tavares Borges Domingues, Jaqueline C. Peres, Aderson S. Araújo, Fernando Ferreira Costa, María de Fátima Sonati,

Tópico(s)

Neonatal Health and Biochemistry

Resumo

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.

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