IthaID: 1512

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Laotian (δβ)0 HGVS Name: NG_000007.3:g.(64336_64524)_76866del
Hb Name: N/A Protein Info: N/A

Also known as: Thai (δβ)0-thal

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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 64336
Size: 12.531 kb
Deletion involves: δ, β

Other details

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

In silico pathogenicity prediction

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
  3. Tritipsombut J, Phylipsen M, Viprakasit V, Chalaow N, Sanchaisuriya K, Giordano PC, Fucharoen S, Harteveld CL, A single-tube multiplex gap-polymerase chain reaction for the detection of eight β-globin gene cluster deletions common in Southeast Asia., Hemoglobin, 36(6), 571-80, 2012 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2021-11-18 13:52:13 (Show full history)

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