General information
Globin chain involved
Status
Heterozygous
Migration zones
Migration positions
98
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Hb J-Chicago
49.6
Hb A
47.9
Hb F
0.3
Hb A2
2.2
Comments
The percentage of Hb J-Chicago is consistently higher than the percentage of Hb A.
Mutation data
Heterozygous Hb J-Chicago
Mutation
HGVS Nomenclature
Beta 76(E20) Ala>Asp
HBB:c.230C>A
Hematological parameters
Name
Result
RBC Count
Normal
Total Hemoglobin
Normal
MCV
Normal
MCH
Normal
Blood smear
Normal
Other analysis
No information
Comments on hematology
Normal
Clinical context
Clinical presentation
Normal
Clinical risk
No data
Variant information
Stability
Normal
Oxygen affinity
Normal
Ethnicities in literature
Found in African & Caucasian populations: met in a 2-year-old black infant male living in Chicago, USA, in a 34-year-old Spanish female and her family, and in a 51-year-old white Spanish female patient followed in endocrinology clinics
Comments on variant information
The rare variant Hb J-Chicago has never been observed in association with any other Hb variant or thalassemia.
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/163659/ Romain P.L. et al., Blood. 1975 Mar;45(3):387-93.
- https://pubmed.ncbi.nlm.nih.gov/9494051/ Arrizabalaga B. et al., Hemoglobin. 1998 Jan;22(1):75-8.
- https://pubmed.ncbi.nlm.nih.gov/29365076/ Riou J. et al., Am J Clin Pathol. 2018 Jan 29;149(2):172-180.
- https://www.elsevier.es/en-revista-endocrinologia-diabetes-nutricion-english-ed--413-articulo-hemoglobin-j-chicago-about-discordant-glycosylated-S2530018024000453 Moreno Tirado A. et al., Endocrinol Diabetes Nutr (Engl Ed). 2024 Apr;71(4):189-190.
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