IthaID: 2263


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: α-ZF HGVS Name: NC_000016.10:g.174046_192396del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The ~18 kb deletion removes the HBA1 and HBQ1 genes leaving intact the HBA2 gene.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34909
Size: 18.35 kb
Deletion involves: α1

Other details

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

Publications / Origin

  1. Indrak K, Gu YC, Novotny J, Huisman TH, A new alpha-thalassemia-2 deletion resulting in microcytosis and hypochromia and in vitro chain imbalance in the heterozygote., Am. J. Hematol. , 43(2), 144-5, 1993
  2. Tufarelli C, Stanley JA, Garrick D, Sharpe JA, Ayyub H, Wood WG, Higgs DR, Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease., Nat. Genet. , 34(2), 157-65, 2003
Created on 2013-10-03 18:35:37, Last reviewed on 2021-06-25 13:46:58 (Show full history)

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