Comparison of two known chromosomal rearrangements in the 뫧-globin complex with identical DNA breakpoints but causing different Hb A(2) levels.
Hemoglobin
; 36(2): 177-82, 2012.
Article
em En
| MEDLINE
| ID: mdl-22273484
ABSTRACT
We report three cases with very heterogeneous Hb A(2) levels caused by known chromosomal rearrangements in the ß-globin locus. These rearrangements had their breakpoints at the same region in the δ gene, leading either to the Senegalese δ(0)ß(+)-thalassemia (δ(0)ß(+)-thal) deletion or to an insertion of a δ gene, known as Anti-Lepore. One patient showed, apart from drastically increased Hb A(2) values of 17.0%, inconspicuous hematological values. He had an Anti-Lepore mutation with three copies of the δ gene, thus explaining the high Hb A(2) level. Two other patients had Hb A(2) levels in the lower borderline range and increased Hb F levels. Molecular analysis showed the Senegalese δ(0)ß(+)-thal deletion. One of them presented with an additional mild ß-thal mutation leading to ß-thal intermedia. These cases illustrate that different gene rearrangements with the same breakpoints in the δ gene can lead to different levels of Hb A(2) depending on the remaining number of δ genes.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Rearranjo Gênico
/
Talassemia beta
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Dosagem de Genes
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Globinas delta
Limite:
Adult
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Female
/
Humans
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Male
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Middle aged
Idioma:
En
Revista:
Hemoglobin
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
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