General information
Globin chain involved
Status
Heterozygous
Migration zones
Migration positions
150
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Hb A + Hb Bougardirey-Mali
95.6
Hb A2
4.4
Comments
Although Hb Bougardirey-Mali is a co-migrating variant of the normal Hb A fraction, this mildly unstable variant leads to a partially distorted peak of the normal Hb A fraction. The high percentage of Hb A2 has not been elucidated.
Mutation data
Heterozygous Hb Bougardirey-Mali
Mutation
HGVS Nomenclature
Beta 119(GH2) Gly>Val
HBB:c.359G>T
Hematological parameters
Name
Result
RBC Count
No information
Total Hemoglobin
No information
MCV
No information
MCH
No information
Blood smear
No information
Other analysis
No information
Comments on hematology
Clinical context
Clinical presentation
Normal
Clinical risk
Variant information
Stability
Mildly unstable
Oxygen affinity
Normal
Ethnicities in literature
Found in Black African populations: met in a 32-year-old African male, native of Mali, living in France, and in a few other Black African families from France
Comments on variant information
The rare variant Hb Bougardirey-Mali has been found in combination with Hb S, without any symptoms of Sickle Cell Disease, and also in combination with Hb C.
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/500370/ Chen-Marotel J. et al., Hemoglobin. 1979;3(4):253-62.
- https://www.jle.com/fr/revues/mtp/e-docs/donnees_actuelles_du_depistage_neonatal_de_la_drepanocytose_en_france_autres_anomalies_de_lhemoglobine_depistees_et_elements_de_prise_en_charge_311560/article.phtml Bachir D. et al., Médecine thérapeutique / Pédiatrie. 2017;20(4):233-242.
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.