IthaID: 2260



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Dutch II HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Comments: The deletion spans approximately 300 kb on the α-globin gene cluster. The 5' breakpoint is located within the C16orf8/RHBDF1 gene, upstream of the distal regulatory elements, and the 3' breakpoint is located within a 136 kb region between the PDIP and AXIN1 genes.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 300 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: Dutch
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Harteveld KL, Losekoot M, Heister AJ, van der Wielen M, Giordano PC, Bernini LF, alpha-Thalassemia in The Netherlands: a heterogeneous spectrum of both deletions and point mutations., Hum. Genet. , 100(3), 465-71, 1997 PubMed
  2. 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
Created on 2013-10-03 18:10:11, Last reviewed on 2018-01-09 18:29:08 (Show full history)

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