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

Revista Brasileira de Hematologia e Hemoterapia

Julio Abayuba Da Luz Pereira²  Pablo López²  Fernando Ferreira Costa¹  Mónica Sans²  Maria De Fatima Sonati¹ 

[1] ,Universidad de la RepúblicaMontevideo AC ,Uruguay

关键词: Hemoglobins;    Hemoglobinopathies;    Anemia;    hemolytic;    congenital;    Humans;    Female;    Adult;    Case reports;   

DOI  :  10.5581/1516-8484.20130037

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY-NC-ND   
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