General information
Globin chain involved
Status
Compound Heterozygous
Migration zones
Migration positions
166
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Hb Shelby
89.7
Hb F
2.3
Hb A2
6.8
Denatured Hb
1.2
Comments
The combination of the mildly unstable Hb Shelby variant with Codon 39 Beta0-thalassemia leads to an additional denatured fraction in Z1 and the complete absence of Hb A. The specific pattern of this profile prevents the software from displaying the different zones.
Mutation data
Compound Heterozygous Hb Shelby
Mutation
HGVS Nomenclature
Beta 131(H9) Gln>Lys
HBB:c.394C>A
Beta0-Thalassemia Codon 39
Mutation
HGVS Nomenclature
Beta 39(C5) Gln>Stop
HBB:c.118C>T
Hematological parameters
Name
Result
RBC Count
Low
Total Hemoglobin
Low
MCV
Low
MCH
Low
Blood smear
Increased target cells
Other analysis
Low hematocrit
Comments on hematology
Microcytosis, reticulocytosis
Clinical context
Clinical presentation
Mild hemolytic anemia symptoms, moderate splenomegaly
Clinical risk
May induce intermediate anemia when associated with Beta0-thalassemia, but without consequence when associated with Hb S
Variant information
Stability
Mildly unstable
Oxygen affinity
Slightly decreased
Ethnicities in literature
Found in Black & Caucasian populations: met in a few Black families living in the USA, in some members of a Sardinian family, in a Turkish patient, in a Brazilian citizen, in a 29-year-old pregnant female from Czech Republic origin living in the UK, and in a 47-year-old female born in Bolivia and living in Spain
Comments on variant information
The rare variant Hb Shelby was also reported in compound heterozygosity with Hb S, Hb C, beta-thalassemia and in double heterozygosity with alpha-thalassemia.
Hb Shelby inhibits Hb S polymerization when associated with this common variant.
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/1244915/ Lutcher C.L. et al., Blood. 1976 Jan;47(1):99-112.
- https://pubmed.ncbi.nlm.nih.gov/6526653/ Moo-Penn W.F. et al., Hemoglobin. 1984;8(6):583-93.
- https://pubmed.ncbi.nlm.nih.gov/1428946/ Cürük M.A. et al., Hemoglobin. 1992;16(5):417-9.
- https://pubmed.ncbi.nlm.nih.gov/6985481/ Orkin SH. et al., J Biol Chem. 1981 Oct 10;256(19):9782-4.
- https://pubmed.ncbi.nlm.nih.gov/6457059/ Trecartin RF. et al., J Clin Invest. 1981 Oct;68(4):1012-7.
- https://pubmed.ncbi.nlm.nih.gov/6896219/ Gorski J. et al., J Mol Biol. 1982 Jan 25;154(3):537-40.
- https://pubmed.ncbi.nlm.nih.gov/2200760/ Oner R. et al., Hemoglobin. 1990;14(1):1-13.
Links to official library websites
- https://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=536 HbVar database ID 536 - Hb Shelby
- https://www.ithanet.eu/db/ithagenes?ithaID=1252 IthaNet portal ID 1252 - Hb Shelby
- https://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=845 HbVar database ID 845 - Codon 39 Beta 0
- https://www.ithanet.eu/db/ithagenes?ithaID=142 IthaNet portal ID 142 - CD 39 CAG>TAG [Gln>STOP]
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