General information
Globin chain involved
Status
Heterozygous
Migration zones
Migration positions
259
Sickle Cell Disease: Yes
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Hb A
61.7
Hb A2 + Degraded Hb C-Ziguinchor
4.2
Hb C-Ziguinchor
34.1
Comments
Mutation data
Heterozygous Hb C-Ziguinchor
Mutation
HGVS Nomenclature
Beta 6(A3) Glu>Val and Beta 58(E2) Pro>Arg
HBB:c.[20A>T;176C>G]
Hematological parameters
Name
Result
RBC Count
No information
Total Hemoglobin
No information
MCV
No information
MCH
No information
Blood smear
Target cells
Other analysis
No information
Comments on hematology
Normal
Clinical context
Clinical presentation
Normal
Clinical risk
This rare variant causes Sickle Cell Disease in association with Hb S. This variant is classified as a non-Hb S Sickling variant
Variant information
Stability
Increased autooxidation
Oxygen affinity
No data
Ethnicities in literature
Found in Black populations: met in members of a Black African family living in Casamance, Senegal
Comments on variant information
The rare variant Hb C-Ziguinchor results from a double mutation of the beta chain (combination of Hb S and Hb Dhofar mutations, on the same beta gene). This variant has been found in combination with a HPFH.
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/1225575/ Goossens M. et al., FEBS Lett. 1975 Oct 15;58(1):149-54.
- https://pubmed.ncbi.nlm.nih.gov/893143/ Hassan W. et al., Hemoglobin. 1977;1(5):487-501.
- https://pubmed.ncbi.nlm.nih.gov/2442578/ Fabritius H. et al., Med Trop (Mars). 1987 Apr-Jun;47(2):177-9.
- https://pubmed.ncbi.nlm.nih.gov/2622319/ Sangare A. et al., Med Trop (Mars). 1989 Oct-Dec;49(4):389-93.
- 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.