IthaID: 290

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	Thai	HGVS Name:	NG_000007.3:g.69826_73313del
Hb Name:	N/A	Protein Info:	N/A

Also known as: 3485 bp deletion, Chongqing deletion, NC_000011.10: g.5224303-5227790del, NC_000011.9: g.5245533_5249020del

Comments: The 5’ breakpoint is located 769bp upstream, and the 3’ breakpoint lies 1292bp downstream from the β-globin gene.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	ClinVar
LOVD

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	β-thalassaemia
Allele Phenotype:	β0
Associated Phenotypes:	Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	69826
Size:	3.488 kb
Deletion involves:	β

Other details

Type of Mutation:	Deletion
Ethnic Origin:	Thai, Chinese
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Breakpoint Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

Sanguansermsri T, Pape M, Laig M, Hundrieser J, Flatz G, Beta zero-thalassemia in a Thai family is caused by a 3.4 kb deletion including the entire beta-globin gene., Hemoglobin, 14(2), 157-68, 1990
Lynch JR, Brown JM, Best S, Jennings MW, Weatherall DJ, Characterization of the breakpoint of a 3.5-kb deletion of the beta-globin gene., Genomics, 10(2), 509-11, 1991
Yin ZZ, Yao J, Wei FX, Chen CY, Yan HM, Zhang M, Targeted Next-Generation Sequencing Reveals a Large Novel β-Thalassemia Deletion that Removes the Entire Gene., Hemoglobin, 2022

Created on 2010-06-16 16:13:15, Last reviewed on 2022-12-12 15:56:44 (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	2021-10-26 13:15:07	The IthaGenes Curation Team	Reviewed. HGVS name and reference added.
4	2021-10-26 13:17:09	The IthaGenes Curation Team	Reviewed. Size corrected.
5	2022-12-12 15:55:44	The IthaGenes Curation Team	Reviewed. Reference, Other names, Ethnic origin, ClinVar link added
6	2022-12-12 15:56:44	The IthaGenes Curation Team	Reviewed.

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