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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