IthaID: 3296
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --GB | HGVS Name: | NC_000016.9:g.(161901_161910)_(178672_178681)del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The deletion was initially reported as "unknown G-B" in a person of Dutch origin, ranging from MLPA probe 10 to probe 15 (MRC-Holland) [PMID: 15894596], and it was later identified in three Australian cases of mixed ethnic backgrounds using a similar approach [PMID: 20110179]. Further analysis revealed the same breakpoint sequence in these four unrelated cases, which is approximately 16.7 kb in length and removes both α-globin genes, as well as pseudogenes HBAP1, HBM, HBZP1. The application of a targeted enrichment method and gap-PCR in 10 additional individuals in a later study mapped the 5' breakpoint between 161,901 and 161,910, and the 3′ breakpoint between 178,672 and 178,681 (±16,771 bp del), with GGCCGGGC as overlapping homologous sequence present at both sides [PMID: 34251753]. This deletion was also found by MLPA and gap-PCR in the Malay population [PMID: 37892108].
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 16.771 kb |
| Deletion involves: | α2, α1, HBM |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Dutch, Malay, |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Publications / Origin
- Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ, Giordano PC, Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification., Journal of medical genetics, 42(12), 922-31, 2005 PubMed
- Phylipsen M, Prior JF, Lim E, Lingam N, Vogelaar IP, Giordano PC, Finlayson J, Harteveld CL, Thalassemia in Western Australia: 11 novel deletions characterized by Multiplex Ligation-dependent Probe Amplification., Blood Cells Mol. Dis. , 44(3), 146-51, 2010 PubMed
- Hottentot QP, de Meijer E, Buermans HPJ, White SJ, Harteveld CL, Breakpoint characterization of a rare alpha -thalassemia deletion using targeted locus amplification on genomic DNA., Int J Lab Hematol, 43(6), 1628-1634, 2021 PubMed
- Yasin NM, Abdul Hamid FS, Hassan S, Mat Yusoff Y, Mohd Sahid EN, Esa E, Characterization of New Alpha Zero (α) Thalassaemia Deletion (--) among Malays in Malaysian Population., Diagnostics (Basel), 13(20), 0, 2023 PubMed