General information
Globin chain involved
Status
Compound Heterozygous
Migration zones
Migration positions
150, 69, 287
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Hb Arta derivate
9.2
Hb Arta
74.9
Hb F
6.4
Hb A2
7.8
Denatured Hb
1.7
Comments
The combination of the unstable Hb Arta variant with Codon 39 Beta0-thalassemia leads to additional denatured fractions and the complete absence of Hb A.
Mutation data
Compound Heterozygous Hb Arta
Mutation
HGVS Nomenclature
Beta 45(CD4) Phe>Cys
HBB:c.137T>G
Beta0-thalassemia Codon 39
Mutation
HGVS Nomenclature
Beta 39(C5) Gln>Stop
HBB:c.118C>T
Hematological parameters
Name
Result
RBC Count
No information
Total Hemoglobin
No information
MCV
No information
MCH
No information
Blood smear
Heinz bodies
Other analysis
No information
Comments on hematology
Clinical context
Clinical presentation
Normal
Clinical risk
Variant information
Stability
Unstable
Oxygen affinity
Decreased
Ethnicities in literature
Found in a Greek family for this rare combination. Beta0-thalassemia Codon 39 is one of the major beta-thal alleles in the Mediterranean region
Comments on variant information
The rare variant Hb Arta has never been observed outside of this case.
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/8555060/ Vassilopoulos G. et al., Br J Haematol. 1995 Nov;91(3):595-601.
- https://pubmed.ncbi.nlm.nih.gov/29365076/ Riou J. et al., Am J Clin Pathol. 2018 Jan 29;149(2):172-180.
- https://pubmed.ncbi.nlm.nih.gov/6985481/ Orkin SH. et al., J Biol Chem. 1981 Oct 10;256(19):9782-4.
- https://pubmed.ncbi.nlm.nih.gov/6457059/ Trecartin RF. et al., J Clin Invest. 1981 Oct;68(4):1012-7.
- https://pubmed.ncbi.nlm.nih.gov/6896219/ Gorski J. et al., J Mol Biol. 1982 Jan 25;154(3):537-40.
- https://pubmed.ncbi.nlm.nih.gov/2200760/ Oner R. et al., Hemoglobin. 1990;14(1):1-13.
Links to official library websites
- https://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=321 HbVar database ID 321 - Hb Arta
- https://www.ithanet.eu/db/ithagenes?ithaID=957 IthaNet portal ID 957 - Hb Arta
- https://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=845 HbVar database ID 845 - Codon 39 Beta 0
- https://www.ithanet.eu/db/ithagenes?ithaID=142 IthaNet portal ID 142 - CD 39 CAG>TAG [Gln>STOP]
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.