IthaID: 1512



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Laotian (δβ)0 HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The Laotian (δβ)0 thalassaemia deletion is approximately 12.5 kb in length with similar breakpoints to the Thai/Vietnamese (δβ)0 [ithaID=1513] deletion. The 5' breakpoint lies in the IVS-II of the δ-globin gene, localised 18 to 24 bp downstream of the Thai/Vietnamese breakpoint. The 3' breakpoint lies in an L1 repeat sequence between two PstI sites 4.7 kb 3’ of the β-globin gene, which is approximately 0.7 kb upstream from the Sicilian deletion breakpoint [ithaID=1507] similar to the Thai/Vietnamese deletion. The deletion breakpoints were localised by resctriction endonuclease mapping. Therefore, in the absence of breakpoint sequence information and given that the breakpoints lie in regions (AT-rich region-Alu and the L1 repeats) with propensity for higher recombination rate, there exists a possibility that the two deletions are different. The Laotian (δβ)0 thalassaemia deletion was found in a heterozygous state in a Laotian man with mild anaemia and elevated HbF (11.5%) with heterocellular distribution.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 12.584 kb
Deletion involves: δ, β

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: Laotian
Inheritance: Recessive
DNA Breakpoint Determined: No

Sequence Viewer

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Publications / Origin

  1. Zhang JW, Stamatoyannopoulos G, Anagnou NP, Laotian (delta beta) (0)-thalassemia: molecular characterization of a novel deletion associated with increased production of fetal hemoglobin., Blood, 72(3), 983-8, 1988 PubMed
  2. Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL, Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification., Blood, 83(6), 1673-82, 1994 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2020-01-03 11:20:55 (Show full history)

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