Two Novel <i>SUPT5H</i> Variants Causing β-Thalassemia Trait Phenotypes

β-Thalassemia is a common genetic hematological disorder resulting from absent or reduced expression of the β-globin gene (<i>HBB</i>). Beyond defects in <i>HBB</i> itself, defects in genes involving its regulation, such as <i>KLF1</i>, <i>ERCC2</i>, and <i>SUPT5H</i> can cause β-thalassemia-like phenotypes. Here, we identified two novel variants in the <i>SUPT5H</i> gene in two families. Family 1 carried a splice-site variant (c.967-1G > A), while family 2 harbored a frameshift variant (c.2605delC, p.Q869Rfs*85). The hematological profiles of all carriers of <i>SUPT5H</i> variants are consistent with previously reported heterozygous <i>SUPT5H</i>-related traits, underscoring the role of <i>SUPT5H</i> haploinsufficiency in modulating <i>HBB</i> regulation.