IthaID: 3572
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 90‐93 (-8bp): (‐AGCTTCGG) | HGVS Name: | HBA2:c.272_279delAGCTTCGG |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CTGAGCGACCTGCACGCGCACA [-/AGCTTCGG] GTGGACCCGGTCAACTTCAAG (Strand: +)
Also known as:
Comments: Reported in three members of a Chinese family. Initially found together with the --SEA deletion in a 2-year-old boy presenting with Hb H disease (Hb 87 g/L, MCV 61.1 fL, MCH 16.4 pg, Hb H 14.3%, Hb Bart's 2.4%). The father was homozygous for this deletion. The mother did not carry this deletion but her fetus, a second baby, had compound heterozygous mutations as the proband. Detected by CE and confirmed by gap-PCR and sequencing analysis.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34164 |
| Size: | 8 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
Sequence Viewer
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Publications / Origin
- Li Y, Liang L, Tian M, Qin T, Wu X, Detection of Hb H disease caused by a novel mutation and -- deletion using capillary electrophoresis., J. Clin. Lab. Anal., 33(7), e22949, 2019 PubMed
Created on 2020-02-19 17:37:49,
Last reviewed on 2020-02-19 17:41:44 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2020-02-19 17:37:49 | The IthaGenes Curation Team | Created |
| 2 | 2020-02-19 17:41:44 | The IthaGenes Curation Team | Reviewed. Reference added. |
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IthaGenes was last updated on 2022-08-12 10:07:42