Related Experiment Video

Updated: Apr 29, 2026

Fabrication of Gate-tunable Graphene Devices for Scanning Tunneling Microscopy Studies with Coulomb Impurities
11:42

Fabrication of Gate-tunable Graphene Devices for Scanning Tunneling Microscopy Studies with Coulomb Impurities

Published on: July 24, 2015

14.7K

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

Andrew Turner1, Jurgen Sasse, Aniko Varadi

  • 1Department of Pathology and Laboratory Medicine , Sheikh Khalifa Medical City, Abu Dhabi , United Arab Emirates.

Hemoglobin
|May 16, 2014
PubMed

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).

Keywords:
Hb Fontainebleauhemoglobinopathyα-globin locus

More Related Videos

Protocol for Relative Hydrodynamic Assessment of Tri-leaflet Polymer Valves11:12

Protocol for Relative Hydrodynamic Assessment of Tri-leaflet Polymer Valves

Published on: October 17, 2013

13.1K
Ultrasonic-Assisted Extraction of Cannabidiolic Acid from Cannabis Biomass05:46

Ultrasonic-Assisted Extraction of Cannabidiolic Acid from Cannabis Biomass

Published on: May 27, 2022

6.5K

Related Concept Videos

Hydrogen Bonds01:04

Hydrogen Bonds

A hydrogen bond is formed when a weakly positive hydrogen atom already bonded to one electronegative atom (for example, the oxygen in the water molecule) is attracted to another electronegative atom from another polar molecule, such as water (H2O), hydrogen fluoride (HF), or ammonia (NH3). The huge electronegativity difference between the H atom (2.1) and the atom to which it is bonded (4.0 for an F atom, 3.5 for an O atom, or 3.0 for an N atom), combined with the very small size of an H atom...
11.9K
Hepatitis01:25

Hepatitis

Hepatitis is an inflammatory condition of the liver most commonly caused by hepatotropic viruses (A–E), though non-infectious causes such as alcohol and drugs also exist.Hepatitis AHepatitis A virus (HAV) is a non-enveloped RNA virus of the Picornaviridae family. It is primarily transmitted via the fecal-oral route, typically through ingestion of contaminated food or water. After ingestion, HAV enters the bloodstream through the oropharynx or intestinal epithelium and reaches the liver.
81
Jaundice01:25

Jaundice

Jaundice, or icterus, is the yellow discoloration of the skin, sclerae, and mucous membranes. It happens when plasma bilirubin levels rise above 2.5-3 mg/dL, leading to bilirubin deposition in tissue.Bilirubin is a byproduct of hemoglobin degradation. In macrophages, hemoglobin breaks down into globin and heme. Globin is converted into amino acids, while heme is turned into biliverdin by heme oxygenase, which is then reduced to unconjugated bilirubin by biliverdin reductase.Unconjugated...
34
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
98
Bicarbonate-Carbonic Acid Buffer01:22

Bicarbonate-Carbonic Acid Buffer

The carbonic acid-bicarbonate buffer system is critical for maintaining the body's pH balance. It operates on the equilibrium:
7.1K