IthaID: 3332

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	rs4025935	HGVS Name:	NG_009246.1:g.4023_4024delTG

Context nucleotide sequence:
AAGGTATATATGCTCTGGAAAACTT [-/TG] TAATATTGAGTTGGTCTGGTGGTAA (Strand: +)

Also known as:

Comments: The GSTM1 null genotype (rs4025935) associated with HbA1 and HbS levels in sickle cell disease patients from Saudi Arabia [PMID: 27885941]. It is a predisposing factor for cardiac iron overload in β-thalassaemia major patients with low body iron as assessed by lifelong serum ferritin levels [PMID: 18477036]. It associated with significantly shorter cardiac MRI T2* values (hence, cardiac iron overload) independent of serum ferritin levels in Egyptian patients with β-thalassaemia major [PMID: 26288192].

External Links

dbSNP

Phenotype

Allele Phenotype (Cis):	N/A
Allele Phenotype (Trans):	N/A
Associated Phenotypes:	Cardiac iron load Anaemia [HP:0001903]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	1
Locus:	NG_009246.1
Locus Location:	4023
Size:	2 bp
Located at:	GSTM1
Specific Location:	5'UTR 0

Other details

Type of Mutation:	Point-Mutation(Deletion)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	Saudi, Egyptian, Sardinian
Molecular mechanism:	N/A
Inheritance:	Quantitative trait
DNA Sequence Determined:	Yes

Sequence Viewer

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Publications / Origin

Origa R, Satta S, Matta G, Galanello R, Glutathione S-transferase gene polymorphism and cardiac iron overload in thalassaemia major., Br. J. Haematol. , 142(1), 143-5, 2008 PubMed
Mokhtar GM, Sherif EM, Habeeb NM, Abdelmaksoud AA, El-Ghoroury EA, Ibrahim AS, Hamed EM, Glutathione S-transferase gene polymorphism: Relation to cardiac iron overload in Egyptian patients with Beta Thalassemia Major., Hematology , 21(1), 46-53, 2016 PubMed
Abu-Duhier F, Mir R, GSTT1 (rs4025935) null genotype is associated with increased risk of sickle cell disease in the populations of Tabuk-Northwestern region of Saudi Arabia., Hematology , 2016 PubMed

Created on 2018-05-03 19:59:26, Last reviewed on 2019-12-23 12:04:04 (Show full history)

A/A	Date	Curator(s)	Comments
1	2018-05-03 19:59:26	The IthaGenes Curation Team	Created
2	2019-07-03 23:11:16	The IthaGenes Curation Team	Reviewed. Comment updated.
3	2019-07-04 12:40:11	The IthaGenes Curation Team	Reviewed. Phenotype added.
4	2019-12-23 12:04:04	The IthaGenes Curation Team	Reviewed. Reference and comment added.

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