IthaID: 313



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: --MED II HGVS Name: N/A
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

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 8726
Size: 31.8 kb
Deletion involves: 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: Mediterranean
Inheritance: Recessive
DNA Breakpoint Determined: Yes

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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 PubMed
  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 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2020-01-22 18:03:34 (Show full history)

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