IthaID: 2954

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 42 TTT>TT-	HGVS Name:	HBB:c.129delT
Hb Name:	Hb Yala	Protein Info:	β 42 (-T); modified C-terminal sequence: (42)Leu-Ser-Pro-Leu-Gly-Ile-Cys-Pro-Leu-Leu- Met-Leu-Leu-Trp-Ala-Thr-Leu-Arg-(60)COOH
Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Comments: Found as a heterozygote with the Hb E variant. The deletion causes a frameshift at codon 42 which results in a premature termination codon (PTC) at codon 60.

External Links

HbVar	LOVD
ClinVar

Phenotype

Hemoglobinopathy Group:	Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	β-thalassaemia, β-chain variant
Allele Phenotype:	β0
Stability:	N/A
Oxygen Affinity:	N/A
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	70853
Size:	1 bp
Located at:	β
Specific Location:	Exon 2

Other details

Type of Mutation:	Point-Mutation(Deletion)
Effect on Gene/Protein Function:	Frameshift (Translation)
Ethnic Origin:	Thai
Molecular mechanism:	Altered heme pocket
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

Ekwattanakit S, Riolueang S, Viprakasit V, Interaction between Hb E and Hb Yala (HBB:c.129delT); a novel frameshift beta globin gene mutation, resulting in Hemoglobin E/β(0) thalassemia., Hematology , 2017

Created on 2016-08-23 10:59:27, Last reviewed on 2017-09-16 10:41:36 (Show full history)

A/A	Date	Curator(s)	Comments
1	2016-08-23 10:59:27	The IthaGenes Curation Team	Created
2	2016-08-23 11:04:20	The IthaGenes Curation Team	Reviewed.
3	2016-08-24 14:30:17	The IthaGenes Curation Team	Reviewed.
4	2017-09-16 10:39:26	The IthaGenes Curation Team	Reviewed. Mutation comment edited. Other Details section updated. Reference added.
5	2017-09-16 10:41:36	The IthaGenes Curation Team	Reviewed. Detection methods section updated.

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.