IthaID: 2264

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --Brazil HGVS Name: NC_000016.10:g.(?_55799)_(986613_1063737)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: No learning difficulties reported

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 1000 kb
Deletion involves: HS40, ζ, α2, α1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Bezerra MA, Araujo AS, Phylipsen M, Balak D, Kimura EM, Oliveira DM, Costa FF, Sonati MF, Harteveld CL, The deletion of SOX8 is not associated with ATR-16 in an HbH family from Brazil., Br. J. Haematol. , 142(2), 324-6, 2008
Created on 2013-10-04 10:45:11, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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