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).
摘要：
3'非翻译区（3'UTR）与mRNA稳定性相关，因为它参与3'末端加工，聚腺苷酸化，和mRNA封顶。位于该区域的突变可引起与β+-地中海贫血（β+-thal）相容的表型。我们报道了一名患有中间β-thal（β-TI）的中国受试者，他发展了输血依赖性贫血。分子研究显示该患者是两个β-thal等位基因的复合杂合子:密码子41/42(-TTCT)(HBB:c.126_129delCTTT)和术语密码子+32(A>C)(HBB:c.*32A>C)。
