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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 levels of HbA2. That SUPT5H acts as modifier in beta-thalassemia carriers became evident from three reported cases in whom combined heterozygosity of SUPT5H and HBB gene variants was observed to resemble a mild beta-thalassemia intermedia phenotype. The different SUPT5H 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.

Original publication

DOI

10.3390/ijms25168928

Type

Journal article

Journal

International journal of molecular sciences

Publication Date

08/2024

Volume

25

Addresses

Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.

Keywords

International Hemoglobinopathy Research Network (INHERENT), Humans, beta-Thalassemia, Nuclear Proteins, Transcriptional Elongation Factors, Heterozygote, Phenotype, Loss of Function Mutation