General information
Globin chain involved
Status
Heterozygous
Migration zones
Migration positions
145
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Hb Brem-sur-Mer + Hb A
97.5
Hb A2
2.5
Comments
Hb Brem-sur-Mer is a partially co-migrating variant of the normal Hb A fraction, resulting in two peaks resolved only at their top. The specific pattern of this profile prevents the software from displaying the different zones.
Mutation data
Heterozygous Hb Brem-sur-Mer
Mutation
HGVS Nomenclature
Beta 9(A6) Ser>Tyr
HBB:c.29C>A
Hematological parameters
Name
Result
RBC Count
Normal
Total Hemoglobin
Normal
MCV
Normal
MCH
Normal
Blood smear
No information
Other analysis
No information
Comments on hematology
Normal
Clinical context
Clinical presentation
Normal
Clinical risk
No known clinical significance
Variant information
Stability
No data
Oxygen affinity
No data
Ethnicities in literature
Found in Caucasian and Afro-Caribbean populations: met in a French Caucasian citizen living in western France, and in a 34-year-old pregnant woman of Afro-Carribean origin living in the UK
Comments on variant information
This mutation, associated with that of Hb D-Punjab, has been described in Hb D-Agri.
Scientific Literature
Scientific references
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