IthaID: 312



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: --MED I HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans approximately 17.5 kb on the α-globin gene cluster, removing both α-globin genes (HBA1, HBA2) but leaving the HBZ gene intact. The deletion breakpoints can be approximated from the sequence of primers that are used to map the deletion. According to Bowden et al 1992 [PMID: 7734346], the deletion extends from a region 5' of the HBZP1 gene (162778-162799) to a region in the HBQ1 gene (180685-180705). The amplification product is about 605 bp and contains an insert of 134 bp originating from a region upstream of the HBZP1 breakpoint. Moreover, the sequencing primers by Tan et al 2001 [PMID: 11439976] place the 5’ breakpoint downstream of the HBZ gene (162260-162281) and the 3’ breakpoint upstream of the HBQ1 gene (180320-180340). The primers used by de Mare et al 2010 [PMID: 20353357] place the 5’ breakpoint further downstream of the HBZ gene (162405-162434). Using the SALSA MLPA® Probemix P140-C1 HBA kit, the immediate 5' and 3' MLPA probe pairs (04624-L04004 and 19233-L25313) are located at positions 159469-159541 (between HBZ and HBZP1) and 171171-181237 (HBQ1 exon 3). 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: 23662
Size: 17.521 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: No

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. Pressley L, Higgs DR, Clegg JB, Weatherall DJ, Gene deletions in alpha thalassemia prove that the 5' zeta locus is functional., Proceedings of the National Academy of Sciences of the United States of America, 77(6), 3586-9, 1980 PubMed
  2. Nicholls RD, Fischel-Ghodsian N, Higgs DR, Recombination at the human alpha-globin gene cluster: sequence features and topological constraints., Cell, 49(3), 369-78, 1987 PubMed
  3. Bowden DK, Vickers MA, Higgs DR, A PCR-based strategy to detect the common severe determinants of alpha thalassaemia., Br. J. Haematol., 81(1), 104-8, 1992 PubMed
  4. Sonati MF, Kimura EM, Grotto HZ, Tavella MH, Costa FF, HbH disease associated with the (--MED) deletion in a Brazilian black woman., Acta Haematol., 87(3), 145-7, 1992 PubMed
  5. 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
  6. 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 2020-01-23 08:43:51 (Show full history)

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