IthaID: 318

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --SPAN HGVS Name: NC_000016.10:g.(169756_170100)_(179044_181595)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion was reported in a Spanish family with 4 members having α1-thalassaemia (--/αα) and 3 members having Hb H disease (--/-α). Restriction enzyme digestion was used to approximate positions of breakpoints. The 5’breakpoint is localised upstream of the HBA2 gene between the restriction enzyme sites HpaI (169756) and SstI (170100). The 3’ breakpoint is localised to a 2.5-kb region that harbors the HBQ1 gene between the restriction enzyme sites EcoRI (179044) and Asp718 (181595) (coordinates: GRCh38.p12, NC_000016.10). More evidence is needed to accurate whether or not the HBQ1 gene is deleted. As the breakpoints are not clearly defined, the deletion size shown on the sequence viewer is just an approximation.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External 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: 30619
Size: 11.839 kb
Deletion involves: α2, α1

Other details

Type of Mutation: Deletion
Ethnic Origin: Spanish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Villegas A, Pérez Gutiérrez A, Díaz Mediavilla J, Espinos D, [Observations of alpha-thalasemia and hemoglobin h in spaniards (author's transl)]., Sangre (Barc), 24(6), 1088-102, 1979 PubMed
  2. Villegas A, Calero F, Vickers MA, Ayyub H, Higgs DR, Alpha thalassaemia in two Spanish families., Eur. J. Haematol. , 44(2), 109-15, 1990 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2020-03-12 10:10:48 (Show full history)

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