title: 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.
abstract: 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.
authors.affiliation: Haematology and Haemotherapy Centre of Pernambuco-HEMOPE, Recife, Pernambuco, Brazil.
authors.forename: Marcos A C
authors.initials: MA
authors.lastname: Bezerra
authors.forename: Dulcinéia M
authors.initials: DM
authors.lastname: Albuquerque
authors.forename: Magnun N N
authors.initials: MN
authors.lastname: Santos
authors.forename: Elza M
authors.initials: EM
authors.lastname: Kimura
authors.forename: Susan E D C
authors.initials: SE
authors.lastname: Jorge
authors.forename: Denise M
authors.initials: DM
authors.lastname: Oliveira
authors.forename: Betânia L T B
authors.initials: BL
authors.lastname: Domingues
authors.forename: Jaqueline C
authors.initials: JC
authors.lastname: Peres
authors.forename: Aderson S
authors.initials: AS
authors.lastname: Araújo
authors.forename: Fernando F
authors.initials: FF
authors.lastname: Costa
authors.forename: Maria F
authors.initials: MF
authors.lastname: Sonati
mesh_terms: D000743:Anemia, Hemolytic / Q000235:genetics*; D001938:Brazil; D002908:Chronic Disease; D018095:Germ-Line Mutation; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D055550:Protein Stability; D017384:Sequence Deletion; D055544:beta-Globins / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C544413:hemoglobin Caruaru; C544414:hemoglobin Olinda