IthaID: 3792


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: N/A HGVS Name: NG_000007.3:g.63154_70565del
Hb Name: Hb Lepore Hong Kong Protein Info: δβ hybrid (δ through CAP site; β through CAP site)

Also known as:

Comments: Found in a heterozygote case presented with Hb 11.7 g/dL, MCV 69.9 fL, MCH 23.0 pg, RBC 5.08×10^12/L, HbA2 2.5% and elevated level of HbF 6.5%.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:β0
δβ fusion
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63154
Size: 7.411 kb
Fusion involves: δ, β

Other details

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

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Li, Dong-Zhi 2021-06-05First report.
Created on 2021-06-07 08:14:00, Last reviewed on 2021-06-07 10:44:06 (Show full history)

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