The unstable Hb Hammersmith or alpha 2 beta 2(42)(CD1)Phe----Ser observed in an Indian child; identification by HPLC and by sequence analysis of amplified DNA.

Cunningham, T A; Baker, F; Kobrinsky, N L; Cepreganova, B; Baysal, E; Wilson, J B; Huisman, T H

Cunningham, T A; Baker, F; Kobrinsky, N L; Cepreganova, B; Baysal, E; Wilson, J B; Huisman, T H.

Afiliación

Cunningham TA; Royal University Hospital, University of Saskatchewan, Saskatoon, Canada.

Hemoglobin ; 16(1-2): 19-25, 1992.

Article en En | MEDLINE | ID: mdl-1634359

RESUMEN

We have identified the unstable hemoglobin variant present in a Chipewayan Indian patient with severe hemolytic anemia as Hb Hammersmith or alpha 2 beta 2(42)(CD1)Phe----Ser. Her parents were normal. Identification was greatly facilitated by the use of reversed phase high performance liquid chromatography for the isolation of the beta X chain and its tryptic fragments, and of sequence analysis of amplified DNA which readily identified a TTT(Phe)----TCT(Ser) mutation at codon 42.

Asunto(s)

Hemoglobinas Anormales/genética; Secuencia de Bases; Cromatografía Líquida de Alta Presión; ADN/genética; Femenino; Amplificación de Genes/genética; Globinas/aislamiento & purificación; Humanos; Indígenas Norteamericanos; Mutación/genética

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hemoglobinas Anormales Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans Idioma: En Revista: Hemoglobin Año: 1992 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Reino Unido

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