General information
Globin chain involved
Status
Heterozygous
Migration zones
Migration positions
220, 281
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Hb A
79.3
Hb Arya
16.2
Hb A2
3.9
Hb "Arya-A2"
0.6
Comments
Hb A2 is elevated: a combination with Beta-thalassemia is not excluded (data not reported). A 16.2% expression of Hb Arya is consistent with a mutation on the Alpha1 gene (not confirmed by genotyping).
Mutation data
Heterozygous Hb Arya
Mutation
HGVS Nomenclature
Alpha2 or Alpha1 47(CE5) Asp>Asn
HBA2:c.142G>A (or HBA1)
Hematological parameters
Name
Result
RBC Count
No information
Total Hemoglobin
Normal
MCV
Normal to low
MCH
Normal to low
Blood smear
No information
Other analysis
No information
Comments on hematology
Clinical context
Clinical presentation
Normal
Clinical risk
Variant information
Stability
Mildly unstable
Oxygen affinity
No data
Ethnicities in literature
Found in Middle-East & Asian populations: met in an Iranian family and several Malaysian families (Alpha 2 chain) and in an Azerbaijani family (Alpha 1 chain)
Comments on variant information
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/1138883/ Rahbar S. et al., Biochim Biophys Acta. 1975 Apr 29;386(2):525-9.
- https://pubmed.ncbi.nlm.nih.gov/28042694/ Pécriaux A. et al., Int J Lab Hematol. 2017 Jun;39(3):e55-e59.
- https://pubmed.ncbi.nlm.nih.gov/29365076/ Riou J. et al., Am J Clin Pathol. 2018 Jan 29;149(2):172-180.
- https://journal.unisza.edu.my/ajmb/index.php/ajmb/article/view/148 Mohd Sahid et al., Asian Journal of Medicine and Biomedicine, 2018, 7.
- https://pubmed.ncbi.nlm.nih.gov/39207009/ Nahanthiran S. et al., Malays J Pathol. 2024 Aug;46(2):315-320.
Links to official library websites
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.