Hb Southampton B106 G8 Leu PRO, CTG CCG in a Uruguayan woman
Rev. bras. hematol. hemoter
;
35(2): 146-147, 2013.
Article
in English
| LILACS
| ID: lil-676321
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.
Full text:
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Index:
LILACS (Americas)
Main subject:
Hemoglobins
/
Cardiotocography
/
Hemoglobinopathies
/
Anemia, Hemolytic, Congenital
Limits:
Adult
/
Female
/
Humans
Country/Region as subject:
South America
/
Uruguay
Language:
English
Journal:
Rev. bras. hematol. hemoter
Journal subject:
Hematology
Year:
2013
Type:
Article
Affiliation country:
Brazil
/
Uruguay
Institution/Affiliation country:
Universidad de la República/UY
/
Universidade Estadual de Campinas/BR
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