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 | Zendy

Bezerra Marcos A. C. | Zendy; Albuquerque Dulcinéia M. | Zendy; Santos Magnun N. N. | Zendy; Kimura Elza M. | Zendy; Jorge Susan E. D. C. | Zendy; Oliveira Denise M. | Zendy; Domingues Betânia L. T. B. | Zendy; Peres Jaqueline C. | Zendy; Araújo Aderson S. | Zendy; Costa Fernando F. | Zendy; Sonati Maria F. | Zendy

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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

Author(s) -

Bezerra Marcos A. C.,

Albuquerque Dulcinéia M.,

Santos Magnun N. N.,

Kimura Elza M.,

Jorge Susan E. D. C.,

Oliveira Denise M.,

Domingues Betânia L. T. B.,

Peres Jaqueline C.,

Araújo Aderson S.,

Costa Fernando F.,

Sonati Maria F.

Publication year - 2009

Publication title -

european journal of haematology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.904

H-Index - 84

eISSN - 1600-0609

pISSN - 0902-4441

DOI - 10.1111/j.1600-0609.2009.01296.x

Subject(s) - mutation , microbiology and biotechnology , globin , germline , medicine , hemoglobin , genetics , biology , gene

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 (T T C→T C 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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