General information
Globin chain involved
Status
Heterozygous
Migration zones
Migration positions
208
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Hb A
62.3
Hb Beograd
35.3
Hb A2
2.4
Comments
Mutation data
Heterozygous Hb Beograd
Mutation
HGVS Nomenclature
Beta 121(GH4) Glu>Val
HBB:c.365A>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 or splenomegaly when combined with beta-thalassemia
Clinical risk
Variant information
Stability
Normal
Oxygen affinity
Normal
Ethnicities in literature
Found in East Europe populations: met in several members of Serbian families, in a Turkish family from ex-Yugoslavia and different other Turkish families
Comments on variant information
The rare variant Hb Beograd has been found in combination with beta0-thalassemia (no Hb A present) and with the alpha-globin chain variant Hb Strumica.
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/4761994/ Efremov GD. et al., Biochim Biophys Acta. 1973 Nov 11;328(1):81-3.
- https://pubmed.ncbi.nlm.nih.gov/809962/ Ruvidić R. et al., Acta Haematol. 1975;54(3):180-7.
- https://pubmed.ncbi.nlm.nih.gov/558572/ Wilkinson T. et al., Pathology. 1977 Jan;9(1):27-37.
- https://pubmed.ncbi.nlm.nih.gov/6480364/ Aksoy M. et al., Hemoglobin. 1984;8(4):417-21.
- https://pubmed.ncbi.nlm.nih.gov/17994384/ Atalay A. et al., Hemoglobin. 2007;31(4):491-3.
- https://pubmed.ncbi.nlm.nih.gov/29365076/ Riou J. et al., Am J Clin Pathol. 2018 Jan 29;149(2):172-180.
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.