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.

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

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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