IthaID: 328



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: --CANT HGVS Name: NC_000016.10:g.(168531_169756)_(182770_183028)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion was reported in a father and his two children from Northern Spain. They were clinically asymptomatic with a slight microcytic anaemia. Restriction enzyme digestion was used to approximate positions of breakpoints. The 5 ’breakpoint is localised upstream of the HBA2 gene, in a region that harbors the HBAP1 gene, between the restriction enzyme sites AccI (168531) and HpaI (169756). More evidence is needed to accurate whether or not the HBAP1 gene is deleted. The 3’ breakpoint is localized upstream of the HBQ1 gene, presumably between the restriction enzyme sites HindIII (182770) and BamHI (183028) (coordinates: GRCh38.p12, NC_000016.10). As the breakpoints are not clearly defined, the deletion size shown on the sequence viewer is just an approximation.

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 29394
Size: 14.497 kb
Deletion involves: α2, α1

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: Spanish
Inheritance: Recessive
DNA Breakpoint Determined: No

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, Sanchez J, Ricard P, Gonzalez FA, Del Potro E, Armada B, Carreno DL, Espinos D, Characterization of a new alpha-thalassemia-1 mutation in a Spanish family., Hemoglobin , 18(1), 29-37, 1994 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2020-03-12 11:04:28 (Show full history)

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