Two Novel SUPT5H Variants Causing β-Thalassemia Trait Phenotypes.

Abstract excerpt

β-Thalassemia is a common genetic hematological disorder resulting from absent or reduced expression of the β-globin gene (HBB). Beyond defects in HBB itself, defects in genes involving its regulation, such as KLF1, ERCC2, and SUPT5H can cause β-thalassemia-like phenotypes. Here, we identified two novel variants in the SUPT5H gene in two families. Family 1 carried a splice-site variant (c.967-1G > A), while...

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