Artículos de revistas
Two new unstable haemoglobins leading to chronic haemolytic anaemia: Hb Caruaru [beta 122 (GH5) Phe -> Ser], a probable case of germ line mutation, and Hb Olinda [beta 22 (B4)-25 (B7)], a deletion of a 12 base-pair sequence
Registro en:
European Journal Of Haematology. Wiley-blackwell Publishing, Inc, v. 83, n. 4, n. 378, n. 382, 2009.
0902-4441
WOS:000269742400013
10.1111/j.1600-0609.2009.01296.x
Autor
Bezerra, MAC
Albuquerque, DM
Santos, MNN
Kimura, EM
Jorge, SEDC
Oliveira, DM
Domingues, BLTB
Peres, JC
Araujo, AS
Costa, FF
Sonati, MF
Institución
Resumen
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) 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. 83 4 378 382 Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) FAPESP [02/13801-7] CNPq [408884/2006-1]