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).
Department of Pathology and Laboratory Medicine , Sheikh Khalifa Medical City, Abu Dhabi , United Arab Emirates.
Andrew
A
Turner
Jurgen
J
Sasse
Aniko
A
Varadi
D000328:Adult; D000368:Aged; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D015995:Prevalence; D014479:United Arab Emirates / Q000453:epidemiology; D017085:alpha-Thalassemia / Q000453:epidemiology / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C062066:hemoglobin Fontainebleau
Hb Fontainebleau; hemoglobinopathy; α-globin locus