IthaID: 1525


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Belgian (Aγδβ)0 HGVS Name: NC_000011.10:g.(5200077_5215844)_(5249806_5251160)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion covers 50 kb.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:Gγ(Aγδβ)0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 50 kb
Deletion involves: , δ, β, pseudo β

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Losekoot M, Fodde R, Gerritsen EJ, van de Kuit I, Schreuder A, Giordano PC, Vossen JM, Bernini LF, Interaction of two different disorders in the beta-globin gene cluster associated with an increased hemoglobin F production: a novel deletion type of (G) gamma + ((A) gamma delta beta)(0)-thalassemia and a delta(0)-hereditary persistence of fetal hemoglobin determinant., Blood, 77(4), 861-7, 1991
  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
Created on 2010-06-16 16:13:17, Last reviewed on 2022-10-13 15:05:10 (Show full history)

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