IthaID: 828
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | CD 7 (-GAG) [-Glu] | HGVS Name: | HBB:c.22_24delGAG |
Hb Name: | Hb Leiden | Protein Info: | β7 (A4) Glu->0 |
Context nucleotide sequence:
CATGGTGCATCTGACTCCTGAG [GAG/-] AAGTCTGCCGTTACTGCCCTGT (Strand: -)
Also known as: Hb Xinyi
Comments: In a recent unpublish report, it was found in a 6-month-old male in compound heterozygosity with Hb Dahua [IthaID: 3747] and Hb Q-Thailand [IthaID: 607] with no clinical presentation. He presented with Hb 11.9 g/dL, RBC 4.74×10^12/L, MCV 80.0 fL, and MCH 25.0 pg. Capillary electrophoresis shown HbA 65.9 %, Hb Xinyi 7.6 %, Hb F + Hb Q-Thailand 22.2 %, HbA2 1.3 %, Hb Q-Thailand-HbA2 1.1% and Hb Xinyi-Q-Thailand 1.9%.
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
---|---|
Hemoglobinopathy Subgroup: | β-chain variant |
Allele Phenotype: | N/A |
Stability: | Unstable |
Oxygen Affinity: | Decreased Oxygen Affinity |
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
---|---|
Locus: | NG_000007.3 |
Locus Location: | 70616 |
Size: | 3 bp |
Located at: | β |
Specific Location: | Exon 1 |
Other details
Type of Mutation: | Point-Mutation(Deletion) |
---|---|
Effect on Gene/Protein Function: | Insertion/Deletion of codons (Protein Structure) |
Ethnic Origin: | American, Chinese, Mexican, Netherlands, South African, Yugoslavian, Dutch |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
Sequence Viewer
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Publications / Origin
- De Jong WW, Went LN, Bernini LF, Haemoglobin Leiden: deletion of beta-6 or 7 glutamic acid., Nature, 220(5169), 788-90, 1968 PubMed
- Jongbloed W, van Twillert G, Schoorl M, Schindhelm RK, Unstable haemoglobin variant Hb Leiden is detected on Sysmex XN-Series analysers., Clin Chem Lab Med, 56(9), e249-e250, 2018 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-08-26 12:18:54 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
3 | 2021-08-26 12:18:54 | The IthaGenes Curation Team | Reviewed. Common name corrected. Origin, protein function and reference added. |
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IthaGenes was last updated on 2022-05-16 10:06:11