Andrew Turner
Hb fontainebleau (hba2: C.64g>c) in the united arab emirates
Turner, Andrew; Sasse, Jurgen; Varadi, Aniko
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.
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
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 |
DOI | https://doi.org/10.3109/03630269.2014.912221 |
Keywords | Hb Fontainebleau, α-globin locus, hemoglobinopathy |
Public URL | https://uwe-repository.worktribe.com/output/826901 |
Publisher URL | http://dx.doi.org/10.3109/03630269.2014.912221 |
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