IthaID: 2235


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: α-αΔ970 HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as: 970 bp deletion

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 970 bp
Deletion involves: α1

Phenotype

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

Other details

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

Publications / Origin

  1. Poodt J, Martens HA, Walsh IB, Felix-Schollaart B, Hermans MH, A newly identified deletion of 970 bp at the alpha-globin locus that removes the promoter region of the alpha1 gene., Hemoglobin , 30(4), 471-7, 2006
Created on 2013-10-03 12:13:28, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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