IthaID: 3275


Names and Sequences

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

Also known as:

Comments: The deletion removes only the the major α-globin regulatory element MCS-R2 (HS-40 site). The deletion extends from position chromosome 16g.103,193 to 106,553 removing 3361 bp. In addition, an insertion of 39 bp bridging the deletion breakpoints was observed possibly resulting from a complex rearrangement involving two fragments of DNA from chromosome 3.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 3.361 kb
Deletion involves: HS40

Other details

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

Publications / Origin

  1. Ferrão J, Silva M, Gonçalves L, Gomes S, Loureiro P, Coelho A, Miranda A, Seuanes F, Reis AB, Pina F, Maia R, Kjöllerström P, Monteiro E, Lacerda JF, Lavinha J, Gonçalves J, Faustino P, Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia., Ann. Hematol. , 96(11), 1921-1929, 2017
Created on 2017-11-08 20:29:58, Last reviewed on 2021-11-30 15:56:23 (Show full history)

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