Splice Acceptor Mutation [<i>HBB</i>:c.93-2A > T] in a Patient with Hb S/ß<sup>0</sup>-Thalassemia.

Waye, John S; Hanna, Meredith; Nakamura, Lisa; Walker, Lynda; Eng, Barry; Nfonsam, Landry E

Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/ß⁰-Thalassemia.

Waye, John S; Hanna, Meredith; Nakamura, Lisa; Walker, Lynda; Eng, Barry; Nfonsam, Landry E.

Afiliación

Waye JS; Molecular Genetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Canada.
Hanna M; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada.
Nakamura L; Molecular Genetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Canada.
Walker L; Molecular Genetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Canada.
Eng B; Molecular Genetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Canada.
Nfonsam LE; Molecular Genetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Canada.

Hemoglobin ; 48(2): 116-117, 2024 Mar.

Article en En | MEDLINE | ID: mdl-38360540

ABSTRACT

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.

Asunto(s)

Hemoglobina Falciforme; Mutación; Sitios de Empalme de ARN; Talasemia beta; Humanos; Talasemia beta/genética; Talasemia beta/diagnóstico; Talasemia beta/sangre; Hemoglobina Falciforme/genética; Globinas beta/genética; Masculino; Heterocigoto; Anemia de Células Falciformes/genética; Anemia de Células Falciformes/diagnóstico; Femenino

Palabras clave

splice acceptor mutation; ß-globin gene; ß-thalassemia

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hemoglobina Falciforme / Talasemia beta / Sitios de Empalme de ARN / Mutación Límite: Female / Humans / Male Idioma: En Revista: Hemoglobin Año: 2024 Tipo del documento: Article País de afiliación: Canadá

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