IthaID: 1548



Names and Sequences

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

Comments: The deletion covers 112 kb, with the immediate 5' and 3' MLPA probe pairs located at positions 5342559-5342603 and 5225968-5226029, respectively (UCSC Genome Browser, May 2004).

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 112 kb
Deletion involves: βLCR, ε, ,

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: εγδβ-thalassaemia
Allele Phenotype:(εGγAγδβ)0
Associated Phenotypes: N/A

Other details

Type of Mutation: Deletion
Ethnic Origin: Dutch
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Harteveld CL, Osborne CS, Peters M, van der Werf S, Plug R, Fraser P, Giordano PC, Novel 112 kb (epsilonGgammaAgamma) deltabeta-thalassaemia deletion in a Dutch family., British journal of haematology, 122(5), 855-8, 2003 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
  3. Thein SL, The molecular basis of β-thalassemia., Cold Spring Harb Perspect Med , 3(5), a011700, 2013 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2018-01-15 17:25:04 (Show full history)

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