title: Hb Southampton [beta106(G8)Leu-->Pro, CTG-->CCG] in an Argentinean boy.
abstract: Hb Southampton (also known as Hb Casper) is characterized by the substitution of a leucine residue for a proline at codon beta106 (CTG-->CCG). This mutation breaks the G helix and severely distorts the tertiary structure of the molecule, producing an unstable hemoglobin (Hb) and severe hemolysis. We identified this hemoglobinopathy in a young patient with severe hemolytic anemia and hepatosplenomegaly.
authors.affiliation: Servicio de Hematología-Oncología, Hospital de Pediatría, Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
authors.forename: Silvia
authors.initials: S
authors.lastname: Eandi Eberle
authors.forename: Nélida I
authors.initials: NI
authors.lastname: Noguera
authors.forename: Gabriela
authors.initials: G
authors.lastname: Sciuccati
authors.forename: Mariana
authors.initials: M
authors.lastname: Bonduel
authors.forename: Lilian
authors.initials: L
authors.lastname: Díaz
authors.forename: Raquel
authors.initials: R
authors.lastname: Staciuk
authors.forename: Aurora
authors.initials: A
authors.lastname: Feliu-Torres
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000235:genetics*; D001797:Blood Protein Electrophoresis / Q000379:methods; D002675:Child, Preschool; D004909:Erythrocyte Indices; D019066:Facies; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D006455:Hemoglobins, Abnormal; C058164:hemoglobin Southampton; D005914:Globins