IthaID: 314



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: -(α)20.5 HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: This deletion is reported to span 20.5 kb on the α-globin gene cluster. According to Nicholls et al 1987 [PMID: 3032452], the 5’ and 3’ breakpoints are localised within an Alu region between the HBZ and HBZP1 genes (157285-157337) and the HBA1 gene (177005-177038), respectively. The sequencing primers by Tan et al 2001 [PMID: 11439976] place the 5’ breakpoint downstream of the HBZ gene (157041-157061) and the 3’ breakpoint upstream the HBQ1 gene (0.3 kb from the HBA1 gene) (177699-177719). The primers used by de Mare et al 2010 [PMID: 20353357] place the 3’ breakpoint closer to the HBA1 gene (177547-177576). Using the SALSA MLPA® Probemix P140-C1 HBA kit, the immediate 5' and 3' MLPA probe pairs (17214-SP0457-L20489 and 08498-L21607) are located at positions 152593-152701 (0.2 kb before HBZ) and 177167-177224 (HBA1 intron 2). 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: 18200
Size: 19.668 kb
Deletion involves: 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. Nicholls RD, Higgs DR, Clegg JB, Weatherall DJ, Alpha zero-thalassemia due to recombination between the alpha 1-globin gene and an AluI repeat., Blood, 65(6), 1434-8, 1985 PubMed
  2. Baysal E, Kleanthous M, Bozkurt G, Kyrri A, Kalogirou E, Angastiniotis M, Ioannou P, Huisman TH, alpha-Thalassaemia in the population of Cyprus., Br. J. Haematol. , 89(3), 496-9, 1995 PubMed
  3. de Mare A, Groeneger AH, Schuurman S, van den Bergh FA, Slomp J, A rapid single-tube multiplex polymerase chain reaction assay for the seven most prevalent alpha-thalassemia deletions and alphaalphaalpha(anti 3.7) alpha-globin gene triplication., Hemoglobin, 34(2), 184-90, 2010 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2020-01-22 17:22:23 (Show full history)

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