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, ?-globin locus, hemoglobinopathy
• Public URL: https://uwe-repository.worktribe.com/output/826901
• Publisher URL: http://dx.doi.org/10.3109/03630269.2014.912221