IthaID: 345


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Init CD ATG>GTG HGVS Name: HBA2:c.1A>G
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Found in the context of a −α3.7 thalassemia chromosome.

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 1 bp
Located at: α3.7 hybrid
Specific Location: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Initiation codon (Translation)
Ethnic Origin: African
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Frequencies

Publications / Origin

  1. Olivieri NF, Chang LS, Poon AO, Michelson AM, Orkin SH, An alpha-globin gene initiation codon mutation in a black family with HbH disease., Blood, 70(3), 729-32, 1987
Created on 2010-06-16 16:13:15, Last reviewed on 2020-10-02 10:44:33 (Show full history)

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