A Woman with Missing Hb A2 Due to a Novel (ÎµÎ³)Î´ß0-Thalassemia and a Novel Î´-Globin Variant Hb A2-Gebenstorf (HBD: c.209G>A).

Saller, Elisabeth; Knijnenburg, Jeroen; Harteveld, Cornelis L; Dutly, Fabrizio

A Woman with Missing Hb A₂ Due to a Novel (ÎµÎ³)Î´ß⁰-Thalassemia and a Novel Î´-Globin Variant Hb A₂-Gebenstorf (HBD: c.209G>A).

Saller, Elisabeth; Knijnenburg, Jeroen; Harteveld, Cornelis L; Dutly, Fabrizio.

Affiliation

Saller E; Analytica Medizinische Laboratorien AG, Zürich, Switzerland.
Knijnenburg J; Hemoglobinopathies Laboratory, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Harteveld CL; Hemoglobinopathies Laboratory, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Dutly F; Analytica Medizinische Laboratorien AG, Zürich, Switzerland.

Hemoglobin ; 44(3): 214-217, 2020 May.

Article in En | MEDLINE | ID: mdl-32605393

Subject(s)

Hemoglobin A2/genetics; Mutation; beta-Thalassemia/diagnosis; beta-Thalassemia/genetics; delta-Globins/genetics; Alleles; Chromatography, High Pressure Liquid; DNA Mutational Analysis; Erythrocyte Indices; Female; Genetic Association Studies/methods; Genetic Predisposition to Disease; Genetic Testing; Heterozygote; Humans; Phenotype; beta-Thalassemia/blood

Key words

Lack of Hb A2; novel locus control region (LCR) enhancer deletion; novel Î´ gene variant Hb A2-Gebenstorf; ß-thalassemia (ß-thal)

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hemoglobin A2 / Beta-Thalassemia / Delta-Globins / Mutation Type of study: Prognostic_studies Limits: Female / Humans Language: En Journal: Hemoglobin Year: 2020 Document type: Article Affiliation country: Switzerland

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