IthaID: 2259



Names and Sequences

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

Comments: The deletion length is approximately 710 kb, with the immediate 5' and 3' MLPA probe pairs located at positions 45799-45856 and 756403-756478, respectively (UCSC Genome Browser, May 2004).

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 710 kb
Deletion involves: HS40, ζ, α2, α1

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: Portuguese, Dutch
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ, Giordano PC, Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification., Journal of medical genetics, 42(12), 922-31, 2005 PubMed
  2. Harteveld CL, Kriek M, Bijlsma EK, Erjavec Z, Balak D, Phylipsen M, Voskamp A, di Capua E, White SJ, Giordano PC, Refinement of the genetic cause of ATR-16., Hum. Genet. , 122(3), 283-92, 2007 PubMed
  3. 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 PubMed
Created on 2013-10-03 18:06:32, Last reviewed on 2018-01-15 17:27:56 (Show full history)

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