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

2014; Taylor & Francis; Volume: 38; Issue: 3 Linguagem: Inglês

10.3109/03630269.2014.912221

1532-432X

Andrew G. Turner, Jürgen Sasse, Anikó Váradi,

Erythrocyte Function and Pathophysiology

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).