Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia

Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia

The +33 C>G variant [NM_000518.5(HBB):c.-18C>G] in the 5′ untranslated region (UTR) of the β-globin gene is described in the literature as both mild and silent, while it causes a phenotype of thalassemia intermedia in the presence of a severe β-thalassemia allele. Despite its potential clinica...

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Bibliographic Details
Main Authors: Coralea Stephanou, Miranda Petrou, Petros Kountouris, Christiana Makariou, Soteroula Christou, Michael Hadjigavriel, Marina Kleanthous, Thessalia Papasavva
Format: Article
Language:English
Published: MDPI AG 2024-01-01
Series:Biomedicines
Subjects:
β-thalassemia intermedia
HBB
5′UTR
silent variant
genotype/phenotype correlation
Online Access:https://www.mdpi.com/2227-9059/12/2/296

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