IthaID: 313


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --MED II HGVS Name: NG_000006.1:g.(7740_9712)_(39907_41156)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans more than 26.5 kb on the α-globin gene cluster, removing all but the HBQ1 gene. Breakpoints were determined by restriction mapping. The 5′ breakpoint is localised upstream of the HBZ gene between the restriction enzyme sites KpnI (146877) and EcoRI (148849). The 3’ breakpoint is localised to a 1.2-kb region upstream from the HBQ1 gene between the restriction enzyme sites EcoRI (179044) and BamHI (180293). Using the SALSA MLPA® Probemix P140-C1 HBA kit, the immediate 5' and 3' MLPA probe pairs (04926-L23886 and 04639-L04020) are located at positions 143638-143702 (9.2 kb before HBZ) and 179746-179815 (2.3 kb after HBA1). As the breakpoints are not clearly defined, the deletion size shown on sequence viewer is just an approximation. Coordinates: GRCh38.p13, NC_000016.10

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 8726
Size: 31.8 kb
Deletion involves: ζ, α2, α1

Other details

Type of Mutation: Deletion
Ethnic Origin: Mediterranean
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Kutlar F, Gonzalez-Redondo JM, Kutlar A, Gurgey A, Altay C, Efremov GD, Kleman K, Huisman TH, The levels of zeta, gamma, and delta chains in patients with Hb H disease., Human genetics, 82(2), 179-86, 1989
  2. Harteveld KL, Losekoot M, Fodde R, Giordano PC, Bernini LF, The involvement of Alu repeats in recombination events at the alpha-globin gene cluster: characterization of two alphazero-thalassaemia deletion breakpoints., Hum. Genet. , 99(4), 528-34, 1997
Created on 2010-06-16 16:13:15, Last reviewed on 2020-01-22 18:03:34 (Show full history)

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