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

Silvia Eandi Eberle, Nélida I. Noguera, Gabriela Sciuccati, Mariana Bonduel, Lilian Díaz, Raquel Staciuk, Aurora Feliu-Torres

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)401-403
Number of pages3
JournalHemoglobin
Volume30
Issue number3
DOIs
Publication statusPublished - Sep 1 2006

Keywords

  • Abnormal Hb
  • Hemolytic anemia
  • Unstable hemoglobin (Hb)

ASJC Scopus subject areas

  • Biochemistry
  • Hematology

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