Severe fetal and neonatal hemolytic anemia due to a 198 kb deletion removing the complete ß-globin gene cluster.
Pediatr Blood Cancer
; 59(5): 941-4, 2012 Nov.
Article
em En
| MEDLINE
| ID: mdl-22294483
ABSTRACT
Fetal and neonatal hemolytic anemia can be caused by (γδß)(0)-thalassemia deletions of the ß-globin gene cluster. Many of these deletions have not been well characterized, and diagnostic tests are not readily available, thus hampering carrier detection, family counseling, and antenatal diagnosis. We report and define a 198 kb deletion removing the entire ß-globin gene cluster, which was found in members of a multigeneration family of Irish/Scottish descent. The proband had life-threatening fetal and neonatal hemolytic anemia which subsided by 1 year of age.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Família Multigênica
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Deleção de Genes
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Globinas beta
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Doenças Fetais
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Anemia Hemolítica Congênita
Limite:
Adult
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Female
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Humans
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Infant
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Newborn
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Pregnancy
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article