General information
Globin chain involved
Status
Heterozygous
Migration zones
Migration positions
143
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Hb Camperdown + Hb A
97.1
Hb A2
2.9
Comments
Hb Camperdown is a partially co-migrating variant of the normal Hb A fraction, leading to a distorted peak of the normal Hb A fraction on the anodic side. The specific pattern of this profile prevents the software from displaying the different zones.
Mutation data
Heterozygous Hb Camperdown
Mutation
HGVS Nomenclature
Beta 104(G6) Arg>Ser
HBB:c.[315G>C or 315G>T]
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
Clinical context
Clinical presentation
Normal
Clinical risk
Variant information
Stability
Mildly unstable
Oxygen affinity
Normal at physiological pH but altered at other pHs
Ethnicities in literature
Found in Caucasian populations of Southern Europe: initially met in members of a Maltese family living in Australia, later in a few families from Northern Italy, Sicily, France, and also in a Brazilian female
Comments on variant information
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/1138922/ Wilkinson T. et al, Biochim Biophys Acta. 1975 May 30;393(1):195-200.
- https://pubmed.ncbi.nlm.nih.gov/2606725/ Kister J. et al., Hemoglobin. 1989;13(6):567-78.
- https://pubmed.ncbi.nlm.nih.gov/2283301/ Zhao W. et al., Hemoglobin. 1990;14(4):459-61.
- https://pubmed.ncbi.nlm.nih.gov/1814857/ Jensen ON. and Roepstorff P., Hemoglobin. 1991;15(6):497-507.
- https://pubmed.ncbi.nlm.nih.gov/8811320/ Debernardi S. et al., Hemoglobin. 1996 May;20(2):155-60.
- https://pubmed.ncbi.nlm.nih.gov/27139613/ Brunel V. et al., Ann Lab Med. 2016 Jul;36(4):375-6.
- https://pubmed.ncbi.nlm.nih.gov/27139613/ 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.