Hb Southampton [beta106(G8)Leu-->Pro, CTG-->CCG] in an Argentinean boy.
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.
Eandi Eberle
Silvia
S
Servicio de Hematología-Oncología, Hospital de Pediatría, Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
Noguera
Nélida I
NI
Sciuccati
Gabriela
G
Bonduel
Mariana
M
Díaz
Lilian
L
Staciuk
Raquel
R
Feliu-Torres
Aurora
A
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
D006455:Hemoglobins, Abnormal; C058164:hemoglobin Southampton; D005914:Globins