Hb Southampton [B106(G8)Leu→PRO, CTG→CCG] in a Uruguayan woman

Hemoglobin Southampton (also known as hemoglobin Casper) is a rare hemoglobin structural variant resulting from a substitution of a leucine residue for proline at codon beta106 [beta106(G8)Leu→Pro, CTG→CCG]. It is very unstable and associated with severe hemolytic anemia. We detected this mutation i...

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Detalles Bibliográficos
Autores principales: Pereira, Julio Abayuba da Luz, López, Pablo, Costa, Fernando Ferreira, Sans, Mónica, Sonati, Maria de Fatima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Associação Brasileira de Hematologia e Hemoterapia 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3672126/
https://www.ncbi.nlm.nih.gov/pubmed/23741194
http://dx.doi.org/10.5581/1516-8484.20130037
Descripción
Sumario:Hemoglobin Southampton (also known as hemoglobin Casper) is a rare hemoglobin structural variant resulting from a substitution of a leucine residue for proline at codon beta106 [beta106(G8)Leu→Pro, CTG→CCG]. It is very unstable and associated with severe hemolytic anemia. We detected this mutation in a 37-year-old Uruguayan woman with a history of severe chronic hemolytic anemia since her childhood. According to our knowledge this is the first time that this variant has been found in the Uruguayan population.

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