General information
Globin chain involved
Status
Heterozygous
Migration zones
Migration positions
139
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Denatured Hb
1.1
Hb Créteil
28.1
Hb A
64.6
Hb A2
6.2
Comments
Hb A2 is overestimated due to the partial integration of Hb A and Hb Créteil (both fractions being underestimated). It is recommended to delete the automatic quantification of the two main peaks and then quantify them together manually.
Mutation data
Heterozygous Hb Créteil
Mutation
HGVS Nomenclature
Beta 89(F5) Ser>Asn
HBB:c.269G>A
Hematological parameters
Name
Result
RBC Count
Elevated
Total Hemoglobin
Elevated
MCV
No information
MCH
No information
Blood smear
No information
Other analysis
Elevated hematocrit
Comments on hematology
Clinical context
Clinical presentation
Possible headache, fatigue, vertigo
Clinical risk
Variant information
Stability
Normal
Oxygen affinity
Greatly increased
Ethnicities in literature
Found in two members of a family from Southern France
Comments on variant information
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/4850219/ Garel MC. et al., FEBS Lett. 1974 Jul 1;43(1):93-6.
- https://pubmed.ncbi.nlm.nih.gov/27132/ Poyart C. et al., Ann Intern Med. 1978 Jun;88(6):758-63.
- https://pubmed.ncbi.nlm.nih.gov/6790544/ Arnone A. et al., J Biol Chem. 1981 Aug 25;256(16):8545-52.
- https://pubmed.ncbi.nlm.nih.gov/7251379/ North ML. et al., Hemoglobin. 1981;5(4):379-90.
- 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.