Characterization of Two Deletions That Remove the Entire Human Zeta-alpha Globin Gene Complex (- -THAI and - -FIL)
Overview
Affiliations
We have fully characterized two alpha thalassaemia mutants that occur in Southeast Asia, - -THAI and - -FIL. Each mutant is due to a deletion that removes the entire zeta-alpha-globin gene complex. Localization of the 5' breakpoints described here, allows the identification of unique fragments that are specific for each of the two mutations. This information can be used to assess the frequency of these mutants in Southeast Asia and will be of value in prenatal testing for alpha thalassaemia in this area.
Ruengdit C, Punyamung M, Intasai N, Pornprasert S PLoS One. 2023; 18(11):e0293838.
PMID: 37930985 PMC: 10627449. DOI: 10.1371/journal.pone.0293838.
The gene spectrum of thalassemia in Yangjiang of western Guangdong Province.
Liang H, Liang W, Xie W, Lin F, Liu L, Li L Front Genet. 2023; 14:1126099.
PMID: 36861132 PMC: 9968962. DOI: 10.3389/fgene.2023.1126099.
He S, Li D, Yi S, Huang X, Zhou C, Chen B Front Pediatr. 2021; 9:724196.
PMID: 34497785 PMC: 8419341. DOI: 10.3389/fped.2021.724196.
Hong R, Chandola U, Zhang L Sci Rep. 2017; 7(1):15701.
PMID: 29146914 PMC: 5691158. DOI: 10.1038/s41598-017-15764-0.
An international registry of survivors with Hb Bart's hydrops fetalis syndrome.
Songdej D, Babbs C, Higgs D Blood. 2017; 129(10):1251-1259.
PMID: 28057638 PMC: 5345731. DOI: 10.1182/blood-2016-08-697110.