IthaID: 1519
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| 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.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
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 |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- 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
- 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
- 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
- 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
- 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
- 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