General information
Globin chain involved
Status
Heterozygous
Migration zones
Migration positions
207
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Denatured Hb
3.0
Hb A
95.3
Hb A2-Coburg
0.7
Hb A2
1.0
Comments
To detect cases of beta-thalassemia, it is necessary to add the percentage of the variant Hb A2-Coburg to the Hb A2 fraction.
Mutation data
Heterozygous Hb A2-Coburg
Mutation
HGVS Nomenclature
Delta 116(G18) Arg>His
HBD:c.350G>A
Hematological parameters
Name
Result
RBC Count
No information
Total Hemoglobin
No information
MCV
No information
MCH
No information
Blood smear
No information
Other analysis
No information
Comments on hematology
Clinical context
Clinical presentation
Due to their low concentration, Delta-globin chain variants are asymptomatic
Clinical risk
Variant information
Stability
No data
Oxygen affinity
No data
Ethnicities in literature
Found in Caucasian, Middle-East & more rarely Asian populations: met in several Sicilian families, some individuals in UK, Iran, and Oman, and a few families in Southern China
Comments on variant information
The rare variant Hb A2-Coburg has been found in combination with beta-thalassemia.
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/1148221/ Sharma RS. et al., Biochim Biophys Acta. 1975 Jun 26;393(2):379-82.
- https://pubmed.ncbi.nlm.nih.gov/12402333/ De Angioletti M. et al., Hum Mutat. 2002 Nov;20(5):358-67.
- https://pubmed.ncbi.nlm.nih.gov/18221842/ Lacerra G. et al., Gene. 2008 Feb 29;410(1):129-38.
- https://pubmed.ncbi.nlm.nih.gov/23215833/ Liu N. et al., Hemoglobin. 2013;37(1):85-93.
- https://pubmed.ncbi.nlm.nih.gov/24601842/ Khalil MS. et al., Hemoglobin. 2014;38(3):201-6.
- https://pubmed.ncbi.nlm.nih.gov/26754299/ Kordafshari A. et al., Hemoglobin. 2016;40(1):44-7.
Globin Chain involved
Status
The term "Double Heterozygous" refers to cases of heterozygosity on different globin chain types, while the term "Compound Heterozygous" refers to cases of heterozygosity on the same globin chain type.
For example, S/G-Pest is a Double Heterozygous case (beta and alpha-globin chains are mutated) and S/C is a Compound Heterozygous case (only beta-globin chains are mutated).
Migration zones
Migration positions
Sickle Cell Disease
Thalassemic variant
Capillary Electrophoresis
Variant information
Ethnicities are provided for informational purposes only and are based on scientific literature and conference posters.
A hemoglobin variant may therefore be present in populations of ethnic origins or countries not listed here.