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:

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].

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


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

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Publications / Origin

  1. 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
  2. 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
  3. 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
  4. 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
Created on 2018-01-10 19:21:25, Last reviewed on 2023-11-03 15:58:56 (Show full history)

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