IthaID: 1519



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Indian (Aγδβ)0 (inv) HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as: Asian-Indian Inv/Del Gγ(Aγδβ)0

Comments: The Gγ(Aγδβ)0-thalassaemia is characterized by abrogated expression from Aγ-, δ- and β-globin genes. It is caused by a major rearrangement that includes an inversion of the sequence between the 3' end of the Aγ gene and the IVS II region of the β-globin gene, followed by two deletions (total 8.5 kb) of the flanking DNA sequence (~1 kb from the Aγ gene and ~7.5 kb from between δ- and β-globin genes). Gene mapping with various enzymes and probes. The breakpoint of the smaller 5' side deletion occurs between the PstI/ XbaI and 0.6 kb EcoRI sites, near the 3' end of the Aγ gene. The inversion breakpoints are between the 0.6 kb EcoRI site and between the HindIII/EcoRI sites in the 3' Aγ gene. The deletion in the downstream region extends from a region between the HindIII/EcoRI sites to exon 3 of the β-globin gene.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 8.294 kb
Deletion involves: , δ, β, pseudo β

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: India, Bangladesh, Kuwait, Iran
Inheritance: Recessive
DNA Breakpoint Determined: No

Sequence Viewer

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Publications / Origin

  1. Amin AB, Pandya NL, Diwin PP, Darbre PD, Kattamis C, Metaxatou-Mavromati A, White JM, Wood WG, Clegg JB, Weatherall DJ, A comparison of the homozygous states for G gamma and G gamma A gamma delta beta thalassaemia., Br. J. Haematol., 43(4), 537-48, 1979 PubMed
  2. Jones RW, Old JM, Trent RJ, Clegg JB, Weatherall DJ, Major rearrangement in the human beta-globin gene cluster., Nature, 291(5810), 39-44, 1981 PubMed
  3. 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
  4. Pandey S, Pandey S, Ranjan R, Mishra R, Sharma M, Saxena R, Phenotypic heterogeneity of asian Indian inversion deletions gγ(aγδβ)0 breakpoint a and breakpoint B., Indian J Clin Biochem, 28(1), 98-101, 2013 PubMed
  5. Dehury S, Purohit P, Meher S, Das K, Patel S, Compound heterozygous state of β-thalassemia with IVS1-5 (G→C) mutation and Indian deletion-inversion Gγ(Aγδβ)(0)-thalassemia in eastern India., Rev Bras Hematol Hemoter, 37(3), 202-6, 2015 PubMed
  6. Lad H, Ghanghoria P, Yadav R, Patel P, Gwal A, Shanmugam R, A Compound Heterozygous Asian Indian Inversion Deletion Gγ(Aγδβ) with β-Thalassemia in Central India: A Case Report., Indian J Hematol Blood Transfus, 34(1), 185-187, 2018 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2019-12-05 10:47:27 (Show full history)

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