IthaID: 1549

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Dutch IV HGVS Name: NC_000011.10:g.(5245669_5248365)_(5440251_5470849)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: As presented in the manuscript of Harteveld CL et al., 2005 (PMID: 15894596) the 5' breakpoint of the deletions is located between the positions 5242035 and 5248196 (probes 35-36) while the 3' breakpoint between the 5440521 and 5470849 (probes 17-18). According to the newest version of the MRC-Holland (SALSA® MLPA® Probemix P102-D1 HBB), the 5' breakpoint is limited between probes HBBP1 probe 18248-SP0631-L27002 and HBG1 probe 21237-L29613. The 3' breakpoint cannot be defined because the breakpoint extends beyond the MLPA probes, therefore the last probe of the kit OR51M1 probe 18247-SP0630-L27000 is deleted. The HGVS name presented is a combination of the two sources and covers approximately more than 220 kb.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 220 kb
Deletion involves: βLCR, ε, , , OR51B5, OR51B6

Other details

Type of Mutation: Deletion
Ethnic Origin: Dutch
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

In silico pathogenicity prediction

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. 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 2022-10-12 10:48:37 (Show full history)

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