IthaID: 3074


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: (αα)JX HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The 742-bp deletion of the upstream of the α-cluster removes the MCS-R2 (ΗS-40) element containing several transcription factor binding sites, e.g.: GATA-1 and AP-1/NF-E2.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 742 bp
Deletion involves: HS40

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Breakpoint Determined: No

Publications / Origin

  1. Wu MY, He Y, Yan JM, Li DZ, A novel selective deletion of the major α-globin regulatory element (MCS-R2) causing α-thalassaemia., Br. J. Haematol. , 2016
Created on 2016-09-08 17:09:36, Last reviewed on 2016-09-08 17:49:35 (Show full history)

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