IthaID: 3997

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	7.2 kb deletion	HGVS Name:	NC_000011.10:g.5222800_5230034del
Hb Name:	N/A	Protein Info:	N/A

Also known as:

Comments: The deletion spans 7.2 kb on the β-globin gene cluster, removing all of the HBB gene, and was initially reported as a heterozygote in a Chinese proband, a 32-year-old male with abnormal values of routine hematological indices. MLPA result showed the deletion across 10 probes targeting HBB gene (deletion probes involved 10 probes between hg38 loc. 11p15.4: 5224905-5229846, including HBB-up, HBB-1, HBB-1 (WT) c., HBB-Intr.1, HBB-Intr.2, HBB-3 and HBB-down regions). TGS result showed the exact length of the deletion was 7.2 Kb (Chr11:5222800-5230034, hg38) located at HBB gene. Gap-PCR and Sanger sequencing validated the deletion breakpoints.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	β-thalassaemia
Allele Phenotype:	β0
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	67582
Size:	7.235 kb
Deletion involves:	β

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Zhong G, Zhong Z, Guan Z, Chen D, Wu Z, Yang K, Chen D, Liu Y, Xu R, Chen J, Case Report: The third-generation sequencing confirmed a novel 7.2 Kb deletion at β-globin gene in a patient with rare β-thalassemia., Front Genet, 13(0), 984996, 2022 PubMed

Created on 2023-01-12 11:16:22, Last reviewed on 2024-02-08 11:06:50 (Show full history)

A/A	Date	Curator(s)	Comments
1	2023-01-12 11:16:22	The IthaGenes Curation Team	Created
2	2024-02-08 11:05:53	The IthaGenes Curation Team	Reviewed. HGVS name corrected.
3	2024-02-08 11:06:50	The IthaGenes Curation Team	Reviewed. Locus location added.

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