IthaID: 3603


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -α6.9 HGVS Name: NG_000006.1:g.29785_36746del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans approximately 6.9 kb on the alpha-globin gene cluster, removing the α2 gene but leaving the α1 gene intact. The 5' deletion breakpoint lies in the HBAP1 gene. Deletion breakpoints were determined by MLPA and Gap-PCR analyses. Reported in a compound heterozygous state with --SEA deletion in a proband presenting with HbH disease.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 29785
Size: 6.962 kb
Deletion involves: α2

Other details

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

Publications / Origin

  1. Zhuang J, Tian J, Wei J, Zheng Y, Zhuang Q, Wang Y, Xie Q, Zeng S, Wang G, Pan Y, Jiang Y, Molecular analysis of a large novel deletion causing α-thalassemia., BMC Med. Genet., 20(1), 74, 2019
Created on 2020-07-10 12:03:57, Last reviewed on 2020-08-10 13:35:55 (Show full history)

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