General information
Globin chain involved
Status
Heterozygous
Migration zones
Migration positions
195
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Hb A
82.0
Hb P-Nilotic
15.5
Hb A2
2.5
Comments
Mutation data
Heterozygous Hb P-Nilotic
Mutation
HGVS Nomenclature
Anti-Lepore Beta-Delta gene from a non-homologous crossover
NG_000007.3:g.63461_70874dup
Hematological parameters
Name
Result
RBC Count
No information
Total Hemoglobin
Low
MCV
Low
MCH
Low
Blood smear
Thalassemic smear
Other analysis
No information
Comments on hematology
Microcytic hypochromic anemia
Clinical context
Clinical presentation
Normal
Clinical risk
May cause intermediate to severe conditions in association with Beta-thalassemia and Hb S
Variant information
Stability
Normal
Oxygen affinity
Increased
Ethnicities in literature
Found in various populations worldwide: met in the Nilotic population in Sudan & Zaire, in a Mexican-American family in the USA, in several members of a Turkish family, in different Black families in Nubia, Egypt, Kenya and Uganda, and in a 33-year-old female living in Israel
Comments on variant information
The beta-delta gene of Hb P-Nilotic is located between a delta and a beta gene and results from a non-homologous crossover between beta and delta genes.
This rare variant is generally not detectable by HPLC techniques.
Genotyping this variant can prove complex. If only direct detection of alpha or beta chains is performed, the Hb P-Nilotic variant goes undetected. However, the MLPA technique makes it possible to reveal the presence of this rare variant.
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/640844/ Moo-Penn WF. et al., Hemoglobin. 1978;2(1):65-9.
- https://pubmed.ncbi.nlm.nih.gov/27230/ Raybourne SR. et al., Biochim Biophys Acta. 1978 Jul 21;535(1):78-84.
- https://pubmed.ncbi.nlm.nih.gov/438612/ Abu-Sin A. et al., J Lab Clin Med. 1979 Jun;93(6):973-82.
- https://pubmed.ncbi.nlm.nih.gov/3620470/ Liu JZ. et al., Biochim Biophys Acta. 1987 Aug 25;909(3):208-12.
- https://pubmed.ncbi.nlm.nih.gov/3667326/ Altay C. et al., Hemoglobin. 1987;11(4):395-9.
- https://pubmed.ncbi.nlm.nih.gov/22384950/ Cui J. et al., Hemoglobin. 2012;36(3):276-82.
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