Article
Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.
International journal of molecular sciences - 16 Aug 2024
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
Abstract excerpt
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 SUPT5H Loss-of-Function variants with a beta-thalassemia-like phenotype including the characteristic elevated...
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