Hb Southampton B106 G8 Leu PRO, CTG CCG in a Uruguayan woman
Rev. bras. hematol. hemoter
; Rev. bras. hematol. hemoter;35(2): 146-147, 2013.
Article
в En
| LILACS
| ID: lil-676321
Ответственная библиотека:
BR408.1
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.
Key words
Полный текст:
1
База данных:
LILACS
Основная тема:
Hemoglobins
/
Cardiotocography
/
Hemoglobinopathies
/
Anemia, Hemolytic, Congenital
Пределы темы:
Adult
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Female
/
Humans
Страна как тема:
America do sul
/
Uruguay
Язык:
En
Журнал:
Rev. bras. hematol. hemoter
Тематика журнала:
HEMATOLOGIA
Год:
2013
Тип:
Article