IthaID: 4096

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Hb Anti-Lepore Laibin HGVS Name: NG_000007.3:g.63100_70511dup
Hb Name: Hb Anti-Lepore Laibin Protein Info: N/A

Also known as:

Comments: Found in a 27-year-old Chinese male presented with normal hematological indices (Hb 14.8 g/dL,MCV 92.1 fL,MCH 30.6 pg,RBC 4.84×1012/L). HbX and HbA2 cannot be separated using capillary 2 Flex Piercing device,and both located in Zone 3.The results showed HbA 81.8%, HbA2+HbX 18.2%.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 63100
Size: 7.412 kb
Fusion involves: δ, β

Other details

Type of Mutation: Fusion
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

To the best of our knowledge, this is unpublished data. Please use with caution!


1Huang, Yuanyuan2024-02-29First report.
Created on 2024-03-01 14:19:36, Last reviewed on 2024-03-05 13:33:28 (Show full history)

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