| Literature DB >> 16840233 |
Silvia Eandi Eberle1, Nélida I Noguera, Gabriela Sciuccati, Mariana Bonduel, Lilian Díaz, Raquel Staciuk, Aurora Feliu-Torres.
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.Entities:
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Year: 2006 PMID： 16840233 DOI： 10.1080/03630260600755930
Source DB: PubMed Journal: Hemoglobin ISSN： 0363-0269 Impact factor: 0.849