%0 Case Reports
%T β-Thalassemia Intermedia Caused by the β-Globin Gene 3' Untranslated Region: Another Case Report.
%A Jiang F
%A Chen GL
%A Li J
%A Tang XW
%A Li DZ
%J Hemoglobin
%V 46
%N 2
%D Mar 2022
%M 35980111
%F 0.822
%R 10.1080/03630269.2022.2086135
%X The 3' untranslated region (3'UTR) is associated with mRNA stability because of its involvement in 3' end processing, polyadenylation, and mRNA capping. Mutations located in this area can cause a phenotype compatible with β+-thalassemia (β+-thal). We report a Chinese subject with β-thal intermedia (β-TI) who developed transfusion-dependent anemia. Molecular studies revealed that the patient was a compound heterozygote for two β-thal alleles: codons 41/42 (-TTCT) (HBB: c.126_129delCTTT) and term codon +32 (A>C) (HBB: c.*32A>C).