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

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).

• Authors: Andrew Turner, Jurgen Sasse, Aniko Varadi
• Journal: Hemoglobin (Hemoglobin) Vol. 38 Issue 3 Pg. 216-20 ( 2014) ISSN: 1532-432X [Electronic] England
• PMID: 24826794 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Fontainebleau

Topics

• Adult
• Aged
• Female
• Hemoglobins, Abnormal (genetics)
• Homozygote
• Humans
• Male
• Prevalence
• United Arab Emirates (epidemiology)
• alpha-Thalassemia (epidemiology, genetics)