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Rev Bras Hematol Hemoter. 2013;35(2):146-7. doi: 10.5581/1516-8484.20130037.

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

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1
Universidad de la República - UdelaR, Montevideo, AC, Uruguay.

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.

KEYWORDS:

Adult; Anemia, hemolytic, congenital; Case reports; Female; Hemoglobinopathies; Hemoglobins; Humans

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