IthaID: 304


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: -α3.5 HGVS Name: NG_000006.1:g.37464_40964del3501
Hb Name: N/A Protein Info: N/A

Also known as:

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37464
Size: 3.501 kb
Deletion involves: α1

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: Indian
Inheritance: Recessive
DNA Breakpoint Determined: No

Publications / Origin

  1. Kulozik AE, Kar BC, Serjeant GR, Serjeant BE, Weatherall DJ, The molecular basis of alpha thalassemia in India. Its interaction with the sickle cell gene., Blood, 71(2), 467-72, 1988
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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