Beta-thalassemia trait associated with a heterozygous loss-of-function variant of SUPT5H in a Southern Chinese family

Learning points for cliniciansThis report identified a novel nonsense transcription elongation factor SPT5 (SUPT5H) variant in a southern Chinese family with beta-thalassemia traits.Our case further corroborates the role of SUPT5H as a new trans-acting candidate underlying the modulation of beta-globin chain production.SUPT5H sequencing should be considered during the diagnosis of unexplained beta-thalassemia, especially for couples from regions with a high prevalence of betathalassemia.