IthaID: 2126

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	South East Asian (SEA) deletion	HGVS Name:	N/A
Hb Name:	N/A	Protein Info:	N/A

Also known as: 27 kb deletion

External Links

HbVar

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:	N/A
Size:	27 kb
Deletion involves:	β

Other details

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

Sequence Viewer

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Publications / Origin

Dimovski AJ, Divoky V, Adekile AD, Baysal E, Wilson JB, Prior JF, Raven JL, Huisman TH, A novel deletion of approximately 27 kb including the beta-globin gene and the locus control region 3'HS-1 regulatory sequence: beta zero-thalassemia or hereditary persistence of fetal hemoglobin?, Blood, 83(3), 822-7, 1994 PubMed

Created on 2013-09-24 10:54:30, Last reviewed on 2013-10-15 17:00:14 (Show full history)

A/A	Date	Curator(s)	Comments
1	2013-09-24 10:54:30	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.

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