IthaID: 124

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	IVS I [3' end] (+22bp)	HGVS Name:	NG_000007.3:g.70807_70828dup
Hb Name:	N/A	Protein Info:	N/A

Also known as:

Comments: The duplication found in heterozygosity with Hb E. The 22bp tandem duplication around the intron 1/exon 2 boundary, resulting in a premature stop codon. The deduced amino acid sequence yielded only 37-residue peptide.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

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:	70807
Size:	22 bp
Located at:	β
Specific Location:	Intron 1

Other details

Type of Mutation:	Point-Mutation(Insertion)
Effect on Gene/Protein Function:	Frameshift (Translation)
Ethnic Origin:	Thai
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Publications / Origin

Rojnuckarin P, Settapiboon R, Vanichsetakul P, Sueblinvong T, Sutcharitchan P, Severe beta(0) thalassemia/hemoglobin E disease caused by de novo 22-base pair duplication in the paternal allele of beta globin gene., American journal of hematology, 82(7), 663-5, 2007

Created on 2010-06-16 16:13:14, Last reviewed on 2020-05-04 12:58:11 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:14	The IthaGenes Curation Team	Created
2	2013-10-15 17:28:32	The IthaGenes Curation Team	Reviewed.
3	2020-04-30 16:24:11	The IthaGenes Curation Team	Reviewed. Chromosome and locus location corrected. HGVS name and comment added.
4	2020-04-30 16:25:31	The IthaGenes Curation Team	Reviewed. Gene added
5	2020-05-04 12:50:56	The IthaGenes Curation Team	Reviewed. Specific location added.
6	2020-05-04 12:58:11	The IthaGenes Curation Team	Reviewed. Corrections.

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