Hb Southampton [β106(G8)Leu→Pro, CTG→CCG] in an Argentinean Boy

Hb Southampton [β106(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 β106 (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 iden...

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Veröffentlicht in:Hemoglobin 2006, Vol.30 (3), p.401-403
Hauptverfasser: Eandi Eberle, Silvia, Noguera, Nélida I., Sciuccati, Gabriela, Bonduel, Mariana, Díaz, Lilian, Staciuk, Raquel, Feliu-Torres, Aurora
Format: Artikel
Sprache:eng
Schlagworte:
Abnormal Hb
Anemia, Hemolytic, Congenital - genetics
Blood Protein Electrophoresis - methods
Child, Preschool
Erythrocyte Indices
Facies
Globins - genetics
Hemoglobins, Abnormal - genetics
Hemolytic anemia
Humans
Male
Point Mutation - genetics
Sequence Analysis, DNA
Unstable hemoglobin (Hb)
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Zusammenfassung:Hb Southampton (also known as Hb Casper) is characterized by the substitution of a leucine residue for a proline at codon β106 (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.
ISSN:0363-0269
1532-432X
DOI:10.1080/03630260600755930