General information
Globin chain involved
Status
Heterozygous
Migration zones
Migration positions
121, 290
Sickle Cell Disease: No
Thalassemic variant: No
Capillary Electrophoresis
Fractions
Value %
Hb J-Guantanamo
39.4
Hb A
57.3
Hb A2
3.1
Denatured Hb
0.2
Comments
Hb J-Guantanamo is an unstable variant which leads to the occurrence of an additional peak of degraded hemoglobin in Z1 zone.
Mutation data
Heterozygous Hb J-Guantanamo
Mutation
HGVS Nomenclature
Beta 128(H6) Ala>Asp
HBB:c.386C>A
Hematological parameters
Name
Result
RBC Count
Normal
Total Hemoglobin
Normal
MCV
Normal
MCH
Normal to low
Blood smear
Target cells
Other analysis
No information
Comments on hematology
Mild hemolytic anemia, mild reticulocytosis
Clinical context
Clinical presentation
Normal
Clinical risk
No data
Variant information
Stability
Slightly unstable
Oxygen affinity
Normal
Ethnicities in literature
Found in Black African & Asian populations: met in three members of a Cuban family from African ancestors, in a family from Benin, in a 18-year-old male of the Dongxiang ethnic group Gansu Province in China, in a 4-year-old female child from Chilean origin living in Italy, in a Japanese family, and in a 57-year-old female with diabetes mellitus in Morocco
Comments on variant information
The rare variant Hb J-Guantanamo has been found in combination with Hb C and alpha-thalassemia.
Scientific Literature
Scientific references
- https://pubmed.ncbi.nlm.nih.gov/849451/ Martínez G. et al., Biochim Biophys Acta. 1977 Mar 28;491(1):1-6.
- https://pubmed.ncbi.nlm.nih.gov/2841847/ Wajcman H. et al., Am J Hematol. 1988 Jul;28(3):170-5.
- https://pubmed.ncbi.nlm.nih.gov/3384711/ Zhu L.H. et al., Hemoglobin. 1988;12(2):189-92.
- https://pubmed.ncbi.nlm.nih.gov/2384311/ Sciarratta G.V. et al., Hemoglobin. 1990;14(1):115-7.
- https://pubmed.ncbi.nlm.nih.gov/8226098/ Yamagishi Y. et al., Hemoglobin. 1993 Aug;17(4):379-85.
- https://pubmed.ncbi.nlm.nih.gov/23388674/ Thom C.S. et al., Cold Spring Harb Perspect Med. 2013 Mar 1;3(3):a011858.
- https://pubmed.ncbi.nlm.nih.gov/38249171/ Ouzzif Z. et al., Cureus. 2023 Dec 22;15(12):e50966.
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