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Hb fontainebleau (hba2: C.64g>c) in the united arab emirates

Turner, Andrew; Sasse, Jurgen; Varadi, Aniko

Authors

Andrew Turner

Jurgen Sasse

Aniko Varadi Aniko.Varadi@uwe.ac.uk
Professor in Biomedical Research



Abstract

Hb Fontainebleau (HBA2: c.64G>C) is a rare α-globin variant, which has previously been described in only 10 individuals worldwide. We report here 12 additional cases identified in our laboratory. These included the first case of a homozygosity for Hb Fontainebleau and cases in which Hb Fontainebleau occurred in combination with deletional and nondeletional α-thalassemia (α-thal). The prevalence of Hb Fontainebleau in the samples submitted to our laboratory for premarital hemoglobinopathy screening was 0.24%, the highest reported prevalence to date, indicating that this is a comparatively common variant in the United Arab Emirates (UAE). © 2014 Informa Healthcare USA, Inc.

Journal Article Type Article
Publication Date Jan 1, 2014
Journal Hemoglobin
Print ISSN 0363-0269
Electronic ISSN 1532-432X
Publisher Informa Healthcare
Peer Reviewed Peer Reviewed
Volume 38
Issue 3
Pages 216-220
APA6 Citation Turner, A., Sasse, J., & Varadi, A. (2014). Hb fontainebleau (hba2: C.64g>c) in the united arab emirates. Hemoglobin, 38(3), 216-220. https://doi.org/10.3109/03630269.2014.912221
DOI https://doi.org/10.3109/03630269.2014.912221
Keywords Hb Fontainebleau, α-globin locus, hemoglobinopathy
Publisher URL http://dx.doi.org/10.3109/03630269.2014.912221
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