IthaID: 3440

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -αMAL3.5 HGVS Name: NG_000006.1:g.32745_36301del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans approximately 3.5 kb on the α-globin gene cluster, removing the entire HBA2 gene. The 5' and 3' breakpoints are located at the Y2 and Y1 boxes, respectively, indicating that the deletion likely results from an unequal crossover event between these homologous Y-boxes. It extends from 965 bp upstream to 1728 bp downstream of the HBA2 gene. Detected in a compound heterozygous state with a phenotype of Hb H disease. Initially reported by Hamid et al [DOI].

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 3.557 kb
Deletion involves: α2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Zhao Y, Lou J, Sun M, Fu Y, Ye W, Li Y, Dai Y, Liu Y, Hb H Disease Results from Compound Heterozygosity of - - and -α in a Chinese Family., Hemoglobin, 43(1), 69-72, 2019 PubMed
Created on 2019-07-29 13:16:15, Last reviewed on 2019-07-29 13:18:05 (Show full history)

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