General information
Globin chain involved
Status
Heterozygous
Migration zones
Migration positions
207, 274
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Hb A
79.0
Hb Q-Iran
18.5
Hb A
2.0
Hb "Q-Iran-A2"
0.5
Comments
Hb A2 is underestimated due to the separation of Hb A2 and Hb "Q-Iran-A2". The correct value of Hb A2 is the sum of these two fractions.
A 18.5% expression of Hb Q-Iran is consistent with an Alpha2 gene mutation (confirmed by genotyping).
Mutation data
Heterozygous Hb Q-Iran
Mutation
HGVS Nomenclature
Alpha2 75(EF4) Asp>His
HBA2:c.226G>C
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
Normal
Clinical context
Clinical presentation
Normal
Clinical risk
No risk even in homozygous status
Variant information
Stability
Normal
Oxygen affinity
No data
Ethnicities in literature
Found in Middle East & Asian populations: met in a few Iranian, Turkish, and Pakistani families, and also in a Chinese family and two Japanese patients
Comments on variant information
The rare variant Hb Q-Iran has been found in homozygous status, in combination with Alpha+-thalassemia type -α3.7/αα + Beta0-thalassemia (IVSII.1.G-->A), and in association with Hb S.
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/5460202/ Lorkin PA. et al., Br J Haematol. 1970 Jul;19(1):117-25.
- https://pubmed.ncbi.nlm.nih.gov/3754247/ Aksoy M. et al., Hemoglobin. 1986;10(2):215-9.
- https://pubmed.ncbi.nlm.nih.gov/17805044/ Rahimi Z. et al., J Pediatr Hematol Oncol. 2007 Sep;29(9):649-51.
- https://pubmed.ncbi.nlm.nih.gov/27264151/ Özdağ H. et al., Turk J Haematol. 2008 Mar 5;25(1):48-50.
- https://pubmed.ncbi.nlm.nih.gov/22309992/ Khorshidi M. et al., J Med Case Rep. 2012 Feb 6;6:47.
- https://pubmed.ncbi.nlm.nih.gov/29365076/ Riou J. et al., Am J Clin Pathol. 2018 Jan 29;149(2):172-180.
- https://pubmed.ncbi.nlm.nih.gov/37723857/ Çakır Madenci Ö. et al., Turk J Haematol. 2023 Dec 5;40(4):258-265.
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