IthaID: 3663

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	HS-40 deletion	HGVS Name:	NC_000016.10:g.(47217_113592)_(113687_143639)del
Hb Name:	N/A	Protein Info:	N/A

Also known as:

Comments: The novel α-thal deletion found in combination with the rightward –α3.7 deletion causing Hb H disease in a 44-year-old man. Patient presented with moderate microcytic hypochromic anemia and electrophoresis analysis showed slightly low Hb A2, with a typical Hb H band (5.3%). The deletion removed the major regulatory element of the α-globin locus, HS-40. The 5’ breakpoint is localised between the positions 47217 and 113592 while the 3’ breakpoint is localized between 113687 and 143639 (coordinates: GRCh38.p13, NC_000016.10). As the breakpoints are not clearly defined the deletion size is just an approximation.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	α-thalassaemia
Allele Phenotype:	α0
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	N/A
Size:	96.422 kb
Deletion involves:	HS40

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Luo S, Chen X, Zhong Q, Wang Q, Xu Z, Qin L, Wang J, Yuan D, Yan T, Tang N, Analysis of rare thalassemia caused by HS-40 regulatory site deletion., Hematology, 25(1), 286-291, 2020 PubMed

Created on 2020-10-15 13:21:07, Last reviewed on 2021-11-30 15:57:42 (Show full history)

A/A	Date	Curator(s)	Comments
1	2020-10-15 13:21:07	The IthaGenes Curation Team	Created
2	2020-10-15 13:21:52	The IthaGenes Curation Team	Reviewed. Comment added.
3	2021-11-30 15:57:42	The IthaGenes Curation Team	Reviewed. Allele phenotype added.

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