title: Hb Southampton [B106(G8)Leu→PRO, CTG→CCG] in a Uruguayan woman.
abstract: Hemoglobin Southampton (also known as hemoglobin Casper) is a rare hemoglobin structural variant resulting from a substitution of a leucine residue for proline at codon beta106 [beta106(G8)Leu→Pro, CTG→CCG]. It is very unstable and associated with severe hemolytic anemia. We detected this mutation in a 37-year-old Uruguayan woman with a history of severe chronic hemolytic anemia since her childhood. According to our knowledge this is the first time that this variant has been found in the Uruguayan population.
authors.affiliation: Universidad de la República - UdelaR, Montevideo, AC, Uruguay.
authors.forename: Julio Abayuba da Luz
authors.initials: JA
authors.lastname: Pereira
authors.forename: Pablo
authors.initials: P
authors.lastname: López
authors.forename: Fernando Ferreira
authors.initials: FF
authors.lastname: Costa
authors.forename: Mónica
authors.initials: M
authors.lastname: Sans
authors.forename: Maria de Fatima
authors.initials: Mde F
authors.lastname: Sonati
keywords: Adult; Anemia, hemolytic, congenital; Case reports; Female; Hemoglobinopathies; Hemoglobins; Humans