General information
Globin chain involved
Status
Heterozygous
Migration zones
Migration positions
178
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Denatured Hb
0.6
Hb A
61.4
Hb Abruzzo
35.5
Hb A2
2.5
Comments
Mutation data
Heterozygous Hb Abruzzo
Mutation
HGVS Nomenclature
Beta 143(H21) His>Arg
HBB:c.431A>G
Hematological parameters
Name
Result
RBC Count
Elevated
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
No data
Clinical risk
Variant information
Stability
Normal
Oxygen affinity
Increased
Ethnicities in literature
Found in Causasian populations: met in three Italian families and in Italian-American families including a case of homozygous pattern
Comments on variant information
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/5031790/ Tentori L. et al., Clin Chim Acta. 1972 Apr;38(1):258-62.
- https://pubmed.ncbi.nlm.nih.gov/239943/ Bonaventura C. et al., J Biol Chem. 1975 Aug 25;250(16):6273-7.
- https://pubmed.ncbi.nlm.nih.gov/1158862/ Bonaventura J. et al., J Biol Chem. 1975 Aug 25;250(16):6278-81.
- https://pubmed.ncbi.nlm.nih.gov/16282896/ Venkateswaran L. et al., J Pediatr Hematol Oncol. 2005 Nov;27(11):618-20.
- https://pubmed.ncbi.nlm.nih.gov/29365076/ Riou J. et al., Am J Clin Pathol. 2018 Jan 29;149(2):172-180.
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.