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Type: Artigo de periódico
Title: Hb Southampton [B106(G8)Leu→PRO, CTG→CCG] in a Uruguayan woman
Author: Pereira, Julio Abayuba da Luz
López, Pablo
Costa, Fernando Ferreira
Sans, Mónica
Sonati, Maria de Fatima
Abstract: 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.
Subject: Hemoglobins
Anemia, hemolytic, congenital
Case reports
Editor: Associação Brasileira de Hematologia e Hemoterapia e daSociedade Brasileira de Transplante de Medula Óssea
Rights: aberto
Identifier DOI: 10.5581/1516-8484.20130037
Date Issue: 1-Jan-2013
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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