General information
Globin chain involved
Status
Heterozygous
Migration zones
Migration positions
176
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Hb A
60.3
Hb British Columbia
36.5
Hb A2
3.2
Comments
Hb British Columbia tends to create Hb hybrids, which leads to the appearance of a raised background from the Z(D) zone to the Z11 zone.
Mutation data
Heterozygous Hb British Columbia
Mutation
HGVS Nomenclature
Beta 101(G3) Glu>Lys
HBB:c.304G>A
Hematological parameters
Name
Result
RBC Count
Normal
Total Hemoglobin
Normal
MCV
Normal to low
MCH
Normal to low
Blood smear
No information
Other analysis
Normal hematocrit
Comments on hematology
Normal or microcytosis and hypochromia
Clinical context
Clinical presentation
Mild Erythrocytosis
Clinical risk
No data
Variant information
Stability
Normal
Oxygen affinity
Increased
Ethnicities in literature
Found in Asian and Caucasian populations: met in a 26-year-old East Indian male living in British Columbia, Canada, in a Caucasian family living in Arkansas, USA, in a person from Alaska, USA, in a 24-year-old pregnant femaie from India, and in a 25-year-old asymptomatic Iranian male during premarital screening
Comments on variant information
The rare variant Hb British Columbia has been found in combination with Beta+-thalassemia IVS-I-6 (HBB:c.92+6T>C).
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/1052179/ Jones R.T. et al., Hemoglobin. 1976-1977;1(2):171-82.
- https://pubmed.ncbi.nlm.nih.gov/6500987/ Stinson R.A., Hemoglobin. 1984;8(5):483-96.
- https://pubmed.ncbi.nlm.nih.gov/3997804/ Shih D.T. et al., J Biol Chem. 1985 May 25;260(10):5919-24.
- https://diabetesjournals.org/clinical/article-abstract/22/3/141/1670/ Huy A. Tran et al., Clin Diabetes 1 July 2004; 22 (3): 141–143.
- https://pubmed.ncbi.nlm.nih.gov/27408413/ Colah R.B. et al., Indian J Hematol Blood Transfus. 2016 Jun;32(Suppl 1):282-6.
- https://pubmed.ncbi.nlm.nih.gov/42333433/ Fathalizade K. et al., J Clin Lab Anal. 2026 Jun 22:e70261.
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