Rare Diseases Symptoms Automatic Extraction

Hb Fontainebleau (HBA2: c.64G > C) in the United Arab Emirates.


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).