Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/ß0-Thalassemia.
Hemoglobin
; 48(2): 116-117, 2024 Mar.
Article
em En
| MEDLINE
| ID: mdl-38360540
ABSTRACT
We report a case of Hb S/ß0-thalassemia (Hb S/ß0-thal) in a patient who is a compound heterozygote for the Hb Sickle mutation (HBBc.20A > T) and a mutation of the canonical splice acceptor sequence of IVS1 (AG > TG, HBBc.93-2A > T). This is the fifth mutation involving the AG splice acceptor site of IVS1, all of which prevent normal splicing and cause ß0-thal.
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Texto completo:
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hemoglobina Falciforme
/
Talassemia beta
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Sítios de Splice de RNA
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Mutação
Limite:
Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article