IthaID: 1404

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	N/A	HGVS Name:	NG_000007.3:g.63160_70572dup
Hb Name:	Hb Hong Kong	Protein Info:	βδ hybrid (β through CAP site; δ from exon 1)

Also known as: Hb Anti-Lepore Hong Kong

Comments: Anti-Lepore βδ hybrid. A crossover within a 54-bp region spanning the junction of cap site (CAP) and exon 1. Protein is identical to δ globin.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	δ-chain variant
Allele Phenotype:	δβ fusion
Stability:	N/A
Oxygen Affinity:	N/A
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

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

Other details

Type of Mutation:	Fusion
Ethnic Origin:	Chinese
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Publications / Origin

So CC, Chan AY, Tsang ST, Lee AC, Au WY, Ma ES, Chan LC, A novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co-inherited with beta(0)-thalassaemia., British journal of haematology, 136(1), 158-62, 2007

Created on 2010-06-16 16:13:17, Last reviewed on 2021-11-23 13:02:22 (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 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2015-12-07 16:09:16	The IthaGenes Curation Team	Reviewed.
4	2017-10-12 12:59:00	The IthaGenes Curation Team	Reviewed. Allele phenotype corrected
5	2018-02-22 19:08:00	The IthaGenes Curation Team	Reviewed. HGVS name and HbVar link added.
6	2021-11-23 13:02:22	The IthaGenes Curation Team	Reviewed. Type of variant corrected.

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