General information
Globin chain involved
Status
Heterozygous
Migration zones
Migration positions
123
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Denatured Hb
2.0
Hb Andrew-Minneapolis
37.7
Hb A
57.3
Hb A2
3.0
Comments
Mutation data
Heterozygous Hb Andrew-Minneapolis
Mutation
HGVS Nomenclature
Beta 144(HC1) Lys>Asn
HBB:c.[435G>C or 435G>T]
Hematological parameters
Name
Result
RBC Count
Elevated
Total Hemoglobin
High
MCV
High
MCH
High
Blood smear
No information
Other analysis
No information
Comments on hematology
Clinical context
Clinical presentation
No data
Clinical risk
Variant information
Stability
No data
Oxygen affinity
Increased
Ethnicities in literature
Found in Causasian populations: met in numerous members of a family of German (Bavaria) descent living in Minnesota/Iowa/North & South Dakota, USA, in a Bulgarian family, in a Turkish family and in a Spanish newborn through a de novo mutation (in combination with a delta-beta-thalassemia)
Comments on variant information
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/4413656/ Zak SJ. et al., Blood. 1974 Oct;44(4):543-9.
- https://pubmed.ncbi.nlm.nih.gov/908760/ Hebbel RP. et al., J Clin Invest. 1977 Nov;60(5):1211-5.
- https://pubmed.ncbi.nlm.nih.gov/2272844/ Tasheva ES. et al., Hemoglobin. 1990;14(2):227-8.
- https://pmc.ncbi.nlm.nih.gov/articles/PMC3486943/ Zur B. et al., Ann Lab Med. 2012 Nov;32(6):450-1.
- https://pubmed.ncbi.nlm.nih.gov/23215953/ Ropero P. et al., Hemoglobin. 2013;37(1):48-55.
- https://pubmed.ncbi.nlm.nih.gov/29365076/ Riou J. et al., Am J Clin Pathol. 2018 Jan 29;149(2):172-180.
- https://pmc.ncbi.nlm.nih.gov/articles/PMC10476262/ Sümter H. et al., Turk J Haematol. 2023 Aug 31;40(3):234-235.
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.