Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia Article Swipe
Coralea Stephanou
,
Miranda Petrou
,
Petros Kountouris
,
Christiana Makariou
,
Soteroula Christou
,
Michael Hadjigavriel
,
Marina Kleanthous
,
Thessalia Papasavva
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.3390/biomedicines12020296
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.3390/biomedicines12020296
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 clinical significance, the determination of its pathogenicity according to established standards requires a greater number of published cases and co-segregation evidence than what is currently available. The present study provides an extensive phenotypic characterization of +33 C>G using 26 heterozygous and 11 compound heterozygous novel cases detected in Cyprus and employs computational predictors (CADD, RegulomeDB) to better understand its impact on clinical severity. Genotype identification of globin gene variants, including α- and δ-thalassemia determinants, and rs7482144 (XmnI) was carried out using Sanger sequencing, gap-PCR, and restriction enzyme digestion methods. The heterozygous state of +33 C>G had a silent phenotype without apparent microcytosis or hypochromia, while compound heterozygosity with a β+ or β0 allele had a spectrum of clinical phenotypes. Awareness of the +33 C>G is required across Mediterranean populations where β-thalassemia is frequent, particularly in Cyprus, with significant relevance in population screening and fetal diagnostic applications.
Related Topics
Concepts
Compound heterozygosity
Genetics
Microcytosis
Allele
Biology
Thalassemia
Sanger sequencing
Beta thalassemia
Genotype
Phenotype
Population
Loss of heterozygosity
Untranslated region
Molecular biology
Gene
Medicine
Internal medicine
DNA sequencing
Anemia
Iron deficiency
RNA
Environmental health
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/biomedicines12020296
- https://www.mdpi.com/2227-9059/12/2/296/pdf?version=1706343027
- OA Status
- gold
- Cited By
- 3
- References
- 30
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4391311640
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4391311640Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3390/biomedicines12020296Digital Object Identifier
- Title
-
Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta ThalassemiaWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-01-27Full publication date if available
- Authors
-
Coralea Stephanou, Miranda Petrou, Petros Kountouris, Christiana Makariou, Soteroula Christou, Michael Hadjigavriel, Marina Kleanthous, Thessalia PapasavvaList of authors in order
- Landing page
-
https://doi.org/10.3390/biomedicines12020296Publisher landing page
- PDF URL
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https://www.mdpi.com/2227-9059/12/2/296/pdf?version=1706343027Direct link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
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https://www.mdpi.com/2227-9059/12/2/296/pdf?version=1706343027Direct OA link when available
- Concepts
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Compound heterozygosity, Genetics, Microcytosis, Allele, Biology, Thalassemia, Sanger sequencing, Beta thalassemia, Genotype, Phenotype, Population, Loss of heterozygosity, Untranslated region, Molecular biology, Gene, Medicine, Internal medicine, DNA sequencing, Anemia, Iron deficiency, RNA, Environmental healthTop concepts (fields/topics) attached by OpenAlex
- Cited by
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3Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1, 2024: 2Per-year citation counts (last 5 years)
- References (count)
-
30Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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