Pereira Julio Abayuba da Luz, López Pablo, Costa Fernando Ferreira, Sans Mónica, Sonati Maria de Fatima
Universidad de la República - UdelaR, Montevideo, AC, Uruguay.
Rev Bras Hematol Hemoter. 2013;35(2):146-7. doi: 10.5581/1516-8484.20130037.
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.
南安普敦血红蛋白（也称为卡斯珀血红蛋白）是一种罕见的血红蛋白结构变异体，由β106密码子处的脯氨酸被亮氨酸取代所致[β106(G8)Leu→Pro，CTG→CCG]。它非常不稳定，与严重的溶血性贫血有关。我们在一名37岁的乌拉圭女性中检测到了这种突变，该女性自童年起就患有严重的慢性溶血性贫血。据我们所知，这是该变异体首次在乌拉圭人群中被发现。
