IthaID: 3440



Names and Sequences

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

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 https://doi.org/10.4081/thal.2015.467].

External Links

No available links

Location

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

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: Chinese, Malaysian-Chinese
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: MLPA

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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