Unusual Causes of β Thalassemia Trait: Discovery of another Three Novel SUPT5H Variants Article Swipe
Nik Fatma Fairuz Nik Mohd Hasan
,
Ahlem Achour
,
Tamara T. Koopmann
,
Adriaan van Gammeren
,
Joep van der Leeuw
,
Huib Ceelie
,
Daniel Stieber
,
Frank Baas
,
Cornelis L. Harteveld
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1080/03630269.2025.2484230
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1080/03630269.2025.2484230
Beta (β) thalassemia is an inherited disorder that occurs following mutations or deletions in the β globin gene. Rarely, it is caused by variants in genes coding for erythroid transcriptional factors or trans-acting factors. Here, we report three novel variants of SUPT5H revealed by next generation sequencing. This, gene has been progressively acknowledged as a mimicker of β thalassemia trait in two independent individuals and one family. These individuals have the same features, including hypochromic microcytic indices, increased Hb A2 levels, without mutations in the β globin gene. The three novel SUPT5H variants identified in this study (c.1168_1169del, c.2688del and c.307+1G>A) are frameshift variants leading to a premature stop codon or an intronic variant predicted to alter the splice site consensus sequence by in silico software. All three variants are characterized as Loss-of-Function variants either by generating a truncated protein or haplo-insufficiency due to nonsense-mediated decay. These findings confirm the general observation that most variants in SUPT5H associated with a β thalassemia trait phenotype are Loss-of-Function variants. This gene should be considered as a potential target gene in the genetic diagnosis of any unsolved cases of increased HbA2 and unexplained inconsistency of phenotype and genotype of β thalassemia intermedia.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1080/03630269.2025.2484230
- https://www.tandfonline.com/doi/pdf/10.1080/03630269.2025.2484230?needAccess=true
- OA Status
- bronze
- Cited By
- 1
- References
- 14
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4408990690
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Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4408990690Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1080/03630269.2025.2484230Digital Object Identifier
- Title
-
Unusual Causes of β Thalassemia Trait: Discovery of another Three Novel SUPT5H VariantsWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2025Year of publication
- Publication date
-
2025-03-04Full publication date if available
- Authors
-
Nik Fatma Fairuz Nik Mohd Hasan, Ahlem Achour, Tamara T. Koopmann, Adriaan van Gammeren, Joep van der Leeuw, Huib Ceelie, Daniel Stieber, Frank Baas, Cornelis L. HarteveldList of authors in order
- Landing page
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https://doi.org/10.1080/03630269.2025.2484230Publisher landing page
- PDF URL
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https://www.tandfonline.com/doi/pdf/10.1080/03630269.2025.2484230?needAccess=trueDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://www.tandfonline.com/doi/pdf/10.1080/03630269.2025.2484230?needAccess=trueDirect OA link when available
- Concepts
-
Genetics, Biology, Frameshift mutation, Gene, Nonsense-mediated decay, Phenotype, Thalassemia, In silico, Nonsense, Exon, Loss function, Compound heterozygosity, Coding region, Genotype, RNA splicing, RNATop concepts (fields/topics) attached by OpenAlex
- Cited by
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1Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1Per-year citation counts (last 5 years)
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14Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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