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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.
Bezerra MA, Albuquerque DM, Santos MN, Kimura EM, Jorge SE, Oliveira DM, Domingues BL, Peres JC, Araújo AS, Costa FF, Sonati MF. Bezerra MA, et al. Among authors: kimura em. Eur J Haematol. 2009 Oct;83(4):378-82. doi: 10.1111/j.1600-0609.2009.01296.x. Epub 2009 Jun 10. Eur J Haematol. 2009. PMID: 19527272
beta0-thalassemia resulting from a novel mutation: beta66/u-->stop codon.
Grignoli CR, Carvalho MH, Kimura EM, Sonati MF, Arruda VR, Saad ST, Costa FF. Grignoli CR, et al. Among authors: kimura em. Eur J Haematol. 2000 Feb;64(2):137-8. doi: 10.1034/j.1600-0609.2000.9l060.x. Eur J Haematol. 2000. PMID: 10997336 No abstract available.
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