Beta thalassemia syndromes: New insights

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World Journal of Clinical Cases

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2307-8960

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Clin Cases. Apr 6, 2025; 13(10): 100223
Published online Apr 6, 2025. doi: 10.12998/wjcc.v13.i10.100223

Table 1 Beta thalassemia variants

Type of β-globin gene variant		Subtype of β-globin gene variant	Beta-thalassemia severity type
Point mutations	Trancriptional variants	Promoter regulatory elements; 5’ untranslated regions	β⁺ or β⁺⁺
	Variants involving RNA processing	Splice junction; consensus splice sites; cryptic splice sites; RNA cleavage - poly A signal; others in 3’ untranslated regions	β⁰, β⁺ or β⁺⁺
	Variants involving RNA translation	Initiation codon; nonsense codons; frameshift	β⁰
Deletions			β⁰

Citation: Dordevic A, Mrakovcic-Sutic I, Pavlovic S, Ugrin M, Roganovic J. Beta thalassemia syndromes: New insights. World J Clin Cases 2025; 13(10): 100223
URL: https://www.wjgnet.com/2307-8960/full/v13/i10/100223.htm
DOI: https://dx.doi.org/10.12998/wjcc.v13.i10.100223

Dordevic A, Mrakovcic-Sutic I, Pavlovic S, Ugrin M, Roganovic J. Beta thalassemia syndromes: New insights. World J Clin Cases 2025; 13(10): 100223 [PMID: 40191679 DOI: 10.12998/wjcc.v13.i10.100223]

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