IthaID: 1522

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	Malaysian-1 (Aγδβ)0	HGVS Name:	N/A
Hb Name:	N/A	Protein Info:	N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	δβ-thalassaemia
Allele Phenotype:	Gγ(Aγδβ)0
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	N/A
Size:	N/A
Deletion involves:	Aγ, δ, β, pseudo β

Other details

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

In silico pathogenicity prediction

Publications / Origin

Trent RJ, Jones RW, Clegg JB, Weatherall DJ, Davidson R, Wood WG, (A gamma delta beta) thalassaemia: similarity of phenotype in four different molecular defects, including one newly described., British journal of haematology, 57(2), 279-89, 1984

Created on 2010-06-16 16:13:17, Last reviewed on 2014-06-04 10:34:51 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:17	The IthaGenes Curation Team	Created
2	2013-10-15 17:28:32	The IthaGenes Curation Team	Reviewed.
3	2014-06-04 10:34:51	The IthaGenes Curation Team	Reviewed. HbVar link added.

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.