General information
Globin chain involved
Status
Homozygous
Migration zones
Migration positions
207
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Hb F
0.8
Hb D-Punjab
96.4
Hb A2
2.8
Comments
Homozygosity for Hb D-Punjab, resulting in the complete absence of the Hb A fraction and a very small amount of Hb F, prevents the profile from being centered (no zone displayed). The remaining fractions are not placed in their expected positions.
Mutation data
Homozygous Hb D-Punjab
Mutation
HGVS Nomenclature
Beta 121(GH4) Glu>Gln
HBB:c.364G>C
Hematological parameters
Name
Result
RBC Count
Normal
Total Hemoglobin
Normal
MCV
Normal
MCH
Normal
Blood smear
Normal
Other analysis
No information
Comments on hematology
Normocytic, normochromic
Clinical context
Clinical presentation
Normal
Clinical risk
No clinical or hematological alterations are observed in cases of heterozygosity or homozygosity.
Severe risk of developing Sicke Cell Disease in combination with Hb S, since Hb D-Punjab enhances Hb S polymerization
Variant information
Stability
Normal
Oxygen affinity
Normal
Ethnicities in literature
Primarily found in the Indus River Valley (Punjab) in Pakistan and in Northwestern India, but is widespread, and has been observed occasionally in people from China, Thailand, England, the Netherlands, Belgium, Greece, the former Yugoslavia, Australia, Brazil, Mexico, Turkey, Morocco, Iran, etc.
Comments on variant information
The common variant Hb D-Punjab has been found in combination with Hb S, Hb C, Hb E, Hb O-Arab, Hb D-Iran, beta-thalassemia, alpha-thalassemia (including Hb H disease), and in the homozygous state.
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/5672850/ Schneider R.G. et al., Blood. 1968 Aug;32(2):250-9.
- https://pubmed.ncbi.nlm.nih.gov/12403491/ Fucharoen S. et al., Hemoglobin. 2002 Aug;26(3):261-9.
- https://pubmed.ncbi.nlm.nih.gov/19233839/ Higgins T.N. et al., Am J Clin Pathol. 2009 Mar;131(3):357-62.
- https://pubmed.ncbi.nlm.nih.gov/23425159/ Belhoul K.M. et al., Hemoglobin. 2013;37(2):119-23.
- https://pubmed.ncbi.nlm.nih.gov/28970692/ Panyasai S. et al., Asian J Transfus Sci. 2017 Jul-Dec;11(2):199-202.
- https://pubmed.ncbi.nlm.nih.gov/29365076/ Riou J. et al., Am J Clin Pathol. 2018 Jan 29;149(2):172-180.
- https://journals.lww.com/jmsc/fulltext/2023/25011/review_of_clinical_and_hematological_profile_of.14.aspx Singh, Neha Lt Col1 et al., Journal of Marine Medical Society 25(Suppl 1):p S74-S79, June 2023.
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