β-Thalassemia Intermedia Caused by the β-Globin Gene 3' Untranslated Region: Another Case Report
Fan Jiang1, Gui-Lan Chen1, Jian Li1
1Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, People's Republic of China.
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).
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