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

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 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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Bibliographic Details
Main Authors: Pereira,Julio Abayuba da Luz, López,Pablo, Costa,Fernando Ferreira, Sans,Mónica, Sonati,Maria de Fatima
Format: Digital revista
Language:English
Published: Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular 2013
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842013000200018
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