General information
Globin chain involved
Status
Heterozygous
Migration zones
Migration positions
105, 135, 193, 219
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Hb Wayne
3.6
Denatured Hb
2.4
Hb Wayne
0.8
Hb A
90.4
Hb "Wayne-A2"
0.2
Hb "Wayne-A2"
0.5
Hb A2
2.1
Comments
Because the mutation induces an elongation of the alpha-chains of hemoglobin, the variant appears as two minor peaks for the main fraction (Hb Wayne I Asn 139 & Hb Wayne II Asp 139) of varying positions within the areas where they migrate.
Mutation data
Heterozygous Hb Wayne
Mutation
HGVS Nomenclature
Alpha2 139 (-A); modified C-terminal sequence: (139)Asn-Thr-Val-Lys-Leu-Glu-Pro-(146)Arg-COOH
HBA2:c.420delA
Hematological parameters
Name
Result
RBC Count
Normal
Total Hemoglobin
Normal
MCV
Normal
MCH
Normal
Blood smear
No information
Other analysis
Normal MCHC, normal hematocrit
Comments on hematology
Normal
Clinical context
Clinical presentation
Normal
Clinical risk
No clinical risk
Variant information
Stability
Normal
Oxygen affinity
Increased
Ethnicities in literature
Found in Caucasian populations: met in some Caucasian families living in the United States, in several members of a Canadian family of Scandinavian origin, and in a British citizen
Comments on variant information
The rare variant Hb Wayne has high oxygen affinity and a markedly reduced Bohr effect. Hb Wayne can interfere with Hb A1c measurement using some technologies (no interference with Capillary Electrophoresis instruments).
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/1062801/ Seid-Akhavan M. et al., Proc Natl Acad Sci U S A. 1976 Mar;73(3):882-6.
- https://pubmed.ncbi.nlm.nih.gov/6327575/ Huisman T.H., Hemoglobin. 1984;8(1):1-15.
- https://pubmed.ncbi.nlm.nih.gov/6527384/ Moo-Penn W.F. et al., J Mol Biol. 1984 Dec 25;180(4):1119-40.
- https://pubmed.ncbi.nlm.nih.gov/26247176/ Rodríguez-Capote K. et al., Clin Biochem. 2015 Nov;48(16-17):1144-50.
- https://pubmed.ncbi.nlm.nih.gov/26848480/ Chen J. et al., J Investig Med High Impact Case Rep. 2016 Jan 28;4(1):2324709616628549.
- 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/38993739/ Marin M.J. et al., J Hematol. 2024 Jun;13(3):99-103.
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
In some cases (homozygotes, combination of the variant with thalassemia, transfused patients, degraded samples or unstable variants), the variation in the migration position may be greater than +/- 1 point.
For profiles with thalassemia, only Hb A2 and Hb F peaks, if present, are listed with 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.
Hematological Parameters