General information
Globin chain involved
Status
Heterozygous
Migration zones
Migration positions
207
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Denatured Hb
0.7
Hb A
52.3
Hb F
2.1
Hb Osu Christiansborg
41.8
Hb A2
3.1
Comments
Mutation data
Heterozygous Hb Osu Christiansborg
Mutation
HGVS Nomenclature
Beta 52(D3) Asp>Asn
HBB:c.157G>A
Hematological parameters
Name
Result
RBC Count
Normal
Total Hemoglobin
Normal to low
MCV
Normal
MCH
Normal
Blood smear
No information
Other analysis
Normal Red Cell Distribution Width (RDW)
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 Black, Middle East & Asian populations: met in several members of a family living in Accra (Ghana), in Black families in the USA and the Netherlands, in a newborn from Brazil (de novo mutation), in an Iranian family, in a 73-year-old diabetic female in India, and in a female from Guangdong province, China
Comments on variant information
The rare variant Hb Osu Christiansborg has been found in combination with Hb C leading to a mild congenital chronic anemia, and also in combination with Hb S.
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/640855/ Rahbar S. et al., Hemoglobin. 1978;2(2):175-9.
- https://pubmed.ncbi.nlm.nih.gov/10335988/ Giordano PC. et al., Hemoglobin. 1999 May;23(2):193-5.
- https://pubmed.ncbi.nlm.nih.gov/15008267/ Rodrigues de Souza L. et al., Hemoglobin. 2004 Feb;28(1):65-8.
- https://pubmed.ncbi.nlm.nih.gov/16178917/ Kapoor D. et al., Clin Lab Haematol. 2005 Oct;27(5):334-5.
- https://pubmed.ncbi.nlm.nih.gov/27117572/ Boucher MO. et al., Hemoglobin. 2016 Jun;40(3):208-9.
- https://pubmed.ncbi.nlm.nih.gov/29262913/ Chen GL. et al., Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2017 Dec;25(6):1768-1771.
- 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
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