IthaID: 213

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	IVS II-726 A>G	HGVS Name:	HBB:c.316-125A>G
Hb Name:	N/A	Protein Info:	β nt 1221 A>G

Context nucleotide sequence:
CTGATGTAAGAGGTTTCATATTGCT [A/G] ATAGCAGCTACAATCCAGCTACCAT (Strand: -)

Also known as:

Comments: Found in a homozygous state in an 8-year-old Moroccan male with beta-thalassaemia intermedia. Mother was heterozygous for this variant with blood profiles consistent with β-thalassaemia trait [PMID: 17994377]. Detected as a heterozygote (normal or borderline red cell indices) and in association with β0 IVS I-1 G>A ( heterozygous trait phenotype) in the resident Sicilian population [PMID: 29171316]. Detected as a heterozygote in five individuals with normal hematology and in association with Hb D-Punjab without a thalassaemia phenotype [PMID: 30047296]. Reported as a mild β+ allele.

External Links

HbVar	dbSNP
LOVD	ClinVar

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	β-thalassaemia
Allele Phenotype:	β+
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:	71765
Size:	1 bp
Located at:	β
Specific Location:	Intron 2

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	Moroccan, Italian
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Frequencies

Publications / Origin

Agouti I, Bennani M, Ahmed A, Barakat A, Mohamed K, Badens C, Thalassemia intermedia due to a novel mutation in the second intervening sequence of the beta-globin gene., Hemoglobin, 31(4), 433-8, 2007 PubMed
Vinciguerra M, Cannata M, Cassarà F, Passarello C, Leto F, Calvaruso G, Renda D, Maggio A, Giambona A, HBB: c.316-125A>G and HBB: c.316-42delC: Phenotypic Evaluations of Two Rare Changes in the Second Intron of the HBB Gene., Hemoglobin, 41(0), 234-238, 2017 PubMed
Grimholt RM, Harteveld CL, Arkesteijn SGJ, Fjeld B, Klingenberg O, Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance., Hemoglobin, 42(2), 126-128, 2018 PubMed

Created on 2010-06-16 16:13:15, Last reviewed on 2023-02-23 11:32:14 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:15	The IthaGenes Curation Team	Created
2	2014-03-12 15:36:25	The IthaGenes Curation Team	Reviewed.
3	2014-06-05 08:49:14	The IthaGenes Curation Team	Reviewed. Reference added.
4	2021-05-24 11:42:02	The IthaGenes Curation Team	Reviewed. Comment and effect on gene added.
5	2021-05-24 11:57:54	The IthaGenes Curation Team	Reviewed. Reference added.
6	2022-02-15 13:18:46	The IthaGenes Curation Team	Reviewed. Comment and Ethnic Origin updated.
7	2022-02-15 13:47:23	The IthaGenes Curation Team	Reviewed. Reference added.
8	2023-02-23 11:32:14	The IthaGenes Curation Team	Reviewed. Comment updated

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