IthaID: 2498


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 86.7 kb (Αγδβ)0 Indian del HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as: HPFH-10

Comments: The 5' breakpoint lies 4.3 kb downstream of Gγ-globin gene and the 3' breakpoint lies in L1 repeat sequence.

External Links

No available links

Phenotype

Hemoglobinopathy Group: HPFH
Hemoglobinopathy Subgroup: HPFH
Allele Phenotype:Gγ(Aγδβ)0
HPFH
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 86.7 kb
Deletion involves: , δ, β, pseudo β

Other details

Type of Mutation: Deletion
Ethnic Origin: Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

Publications / Origin

  1. Mayuranathan T, Rayabaram J, Das R, Arora N, Edison ES, Chandy M, Srivastava A, Velayudhan SR, Identification of rare and novel deletions that cause (δβ)(0) -thalassaemia and hereditary persistence of foetal haemoglobin in Indian population., Eur. J. Haematol. , 92(6), 514-20, 2014
Created on 2014-06-05 09:41:55, Last reviewed on 2019-09-26 16:36:17 (Show full history)

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