Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia

It is well known that modifiers play a role in ameliorating or exacerbating disease phenotypes in patients and carriers of recessively inherited disorders such as sickle cell disease and thalassemia. Here, we give an overview of the literature concerning a recently described association in carriers...

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Bibliographic Details
Published in:International journal of molecular sciences 2024-08, Vol.25 (16), p.8928
Main Authors: Harteveld, Cornelis L, Achour, Ahlem, Fairuz Mohd Hasan, Nik Fatma, Legebeke, Jelmer, Arkesteijn, Sandra J G, Huurne, Jeanet Ter, Verschuren, Maaike, Bhagwandien-Bisoen, Sharda, Schaap, Rianne, Vijfhuizen, Linda, Idrissi, Hakima El, Babbs, Christian, Higgs, Douglas R, Koopmann, Tamara T, Vrettou, Christina, Traeger-Synodinos, Joanne, Baas, Frank
Format: Article
Language:English
Subjects:
beta-Thalassemia - genetics
Blood diseases
Cell cycle
Gene expression
Genotype & phenotype
Hematology
Hemoglobin
Heterozygote
Humans
Loss of Function Mutation
Mutation
Nuclear Proteins - genetics
Phenotype
Proteins
Review
RNA polymerase
Transcription factors
Transcriptional Elongation Factors - genetics
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Summary:It is well known that modifiers play a role in ameliorating or exacerbating disease phenotypes in patients and carriers of recessively inherited disorders such as sickle cell disease and thalassemia. Here, we give an overview of the literature concerning a recently described association in carriers of Loss-of-Function variants with a beta-thalassemia-like phenotype including the characteristic elevated levels of HbA . That acts as modifier in beta-thalassemia carriers became evident from three reported cases in whom combined heterozygosity of and gene variants was observed to resemble a mild beta-thalassemia intermedia phenotype. The different variants and hematologic parameters reported are collected and reviewed to provide insight into the possible effects on hematologic expression, as well as potential disease mechanisms in carriers and patients.
ISSN:1661-6596
1422-0067
1422-0067
DOI:10.3390/ijms25168928