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

• Published in: Hemoglobin Vol. 46; no. 2; pp. 137 - 139
• Main Authors: Jiang, Fan, Chen, Gui-Lan, Li, Jian, Tang, Xue-Wei, Li, Dong-Zhi
• Format: Journal Article
• Language: English
• Published: 04.03.2022
• ISSN: 0363-0269; 1532-432X; 1532-432X
• DOI: 10.1080/03630269.2022.2086135

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).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).