β-Thalassemia Intermedia Caused by the β-Globin Gene 3′ Untranslated Region: Another Case Report

Abstract

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).

Keywords:

• β-Thalassemia (β-thal)
• β-thal intermedia (β-TI)
• 3′ untranslated region (3′UTR)

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This study was financially supported by grants from the Provincial Department of Science and Technology Agency of Guangdong [2021A1515220088] and Guangzhou Institute of Pediatrics, Guangzhou Women and Children’s Medical Center [IP-2019–004], Guangdong Province, People’s Republic of China.