IthaID: 328

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

ClinVar

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	29394
Size:	14.497 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

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)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:15	The IthaGenes Curation Team	Created
2	2013-10-15 17:28:32	The IthaGenes Curation Team	Reviewed.
3	2020-03-12 11:04:28	The IthaGenes Curation Team	Reviewed. HGVS name, Chromosome, Locus location and size corrected. Comment added.

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