General information
Globin chain involved
Status
Heterozygous
Migration zones
Migration positions
198, 269
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Hb A
84.5
Hb Winnipeg
12.7
Hb A2
2.4
Hb "Winnipeg-A2"
0.4
Comments
Hb A2 is underestimated due to the separation of Hb A2 and Hb "Winnipeg-A2". The correct value of Hb A2 is the sum of these two fractions.
A 12.4% expression of Hb Winnipeg is consistent with an Alpha1 gene mutation (confirmed by genotyping).
Mutation data
Heterozygous Hb Winnipeg
Mutation
HGVS Nomenclature
Alpha1 or Alpha2 75(EF4) Asp>Tyr
HBA1:c.226G>T (or HBA2)
Hematological parameters
Name
Result
RBC Count
Normal to low
Total Hemoglobin
Normal to low
MCV
Normal
MCH
Normal to low
Blood smear
No information
Other analysis
No information
Comments on hematology
Normal
Clinical context
Clinical presentation
Normal
Clinical risk
No data
Variant information
Stability
Normal
Oxygen affinity
No data
Ethnicities in literature
Found in Caucasian populations: met in a few Caucasian families in Canada, the United States, France (more frequently in Normandy), in a 29-year-old male from UK, in a Greek patient, and in a Sardinian family
Comments on variant information
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/4728965/ Vella F. et al., Clin Biochem. 1973 Jun;6(2):66-70.
- https://pubmed.ncbi.nlm.nih.gov/6841125/ Nakatsuji T. et al., Hemoglobin. 1983;7(1):105-10.
- https://pubmed.ncbi.nlm.nih.gov/8629808/ Chami B. et al., Ann Genet. 1995;38(4):206-16.
- https://pubmed.ncbi.nlm.nih.gov/18923834/ Moradkhani K. et al., Ann Hematol. 2009 Jun;88(6):535-43.
- 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/34496687/ Khalil MSM. et al., Hemoglobin. 2021 Jul;45(4):256-258.
Links to official library websites
- https://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=113 HbVar database ID 113 - Hb Winnipeg
- https://www.ithanet.eu/db/ithagenes?ithaID=2503 IthaNet portal ID 2503 - Hb Winnipeg (alpha 1)
- https://www.ithanet.eu/db/ithagenes?ithaID=614 IthaNet portal ID 614 - Hb Winnipeg (alpha 2)
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