IthaID: 3835

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	78.9 kb Gγ(Aγδβ)0 del	HGVS Name:	NC_000011.10:g.5169895_5248821delins5216274_5216309
Hb Name:	N/A	Protein Info:	N/A

Also known as:

Comments: Found in a homozygous state in a 14-year old male presented with severe anaemia and moderate microcytosis and hypochromia. The patient had no history of blood transfusion and showed extremely elevated HbF level which is essential for his survival. Several single-nucleotide polymorphisms associated with high HbF levels were identified in the patient (rs7719521, rs4910742, rs1391619, rs2855123 and rs2855126) by whole genome sequencing analysis. RNA-sequencing revealed increased expression levels of TAL1, ATF2, and ATF4, which act as positive regulators of HbF levels and decreased LYAR, which is essential for γ-globin gene silencing. The deletion includes the genes HBB, OR51V1, HBBP1, HBD, OR52Z1, BGLT3, and partial of the HBG1 gene. Parents and sister of the patient were heterozygotes for the deletion. They exhibited mild hypochromia and microcytosis and moderately elevated level of HbF.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

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:	43875
Size:	78.9 kb
Located at:	Aγ, δ, β, pseudo β, OR52Z1-OR51V1

Other details

Type of Mutation:	Insertion & Deletion
Ethnic Origin:	Chinese
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Zhang X, Yang Y, Zhang H, Du Z, Liu H, Shen Y, A rare complex rearrangement in the β-globin gene cluster causing a novel homozygous γ( γδβ) -thalassemia., Am J Hematol, 96(6), E189-E193, 2021 PubMed

Created on 2021-07-19 16:10:23, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2021-07-19 16:10:23	The IthaGenes Curation Team	Created

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