Additional value of red blood cell parameters in predicting uncommon &#945;-thalassemia; experience from 10 years of &#945;-globin gene sequencing and copy number variation analysis.

Fjeld, Bente; Sudmann-Day, Åshild Amelie; Grimholt, Runa Marie; Larstorp, Anne Cecilie Kjeldsen; Urdal, Petter; Klingenberg, Olav

Additional value of red blood cell parameters in predicting uncommon α-thalassemia; experience from 10 years of α-globin gene sequencing and copy number variation analysis.

Fjeld, Bente; Sudmann-Day, Åshild Amelie; Grimholt, Runa Marie; Larstorp, Anne Cecilie Kjeldsen; Urdal, Petter; Klingenberg, Olav.

Fjeld B; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.
Sudmann-Day ÅA; Faculty of Medicine, University of Oslo, Oslo, Norway.
Grimholt RM; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.
Larstorp ACK; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.
Urdal P; Department of Life Sciences and Health, Oslo Metropolitan University, Oslo, Norway.
Klingenberg O; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.

Int J Lab Hematol ; 45(2): 250-259, 2023 Apr.

Article en En | MEDLINE | ID: mdl-36567661

Asunto(s)

Hemoglobinopatías; Talasemia alfa; Niño; Adulto; Humanos; Talasemia alfa/diagnóstico; Talasemia alfa/genética; Variaciones en el Número de Copia de ADN; Globinas alfa/genética; Eritrocitos; Índices de Eritrocitos

Palabras clave

alpha-thalassemia; erythrocyte count; erythrocyte indices; genetic techniques; thalassemia

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Talasemia alfa / Hemoglobinopatías Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Humans Idioma: En Año: 2023 Tipo del documento: Article

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