Abstract：
Patients with the genotype of β0/β0 for β-thalassemia (β-thal) usually behave as β-thal major (β-TM) phenotype which is transfusion-dependent. The pathophysiology of β-thal is the imbalance between α/β-globin chains. The degree of α/β-globin imbalance can be reduced by the more effective synthesis of γ-globin chains, and increased Hb F levels, modifying clinical severity of β-TM. We report a Chinese child who had homozygous β0-thal and a heterozygous KLF1 mutation. The patient had a moderate anemia since 6 months old, keeping a baseline Hb value of 8.0-9.0 g/dL. She had normal development except for a short stature (3rd percentile) until 6 years old, when splenomegaly and facial bone deformities occurred. Although genetic alteration of KLF1 expression in β0/β0 patients can result in some degree of disease alleviation, our case shows that it is insufficient to ameliorate satisfactorily the presentation. This point should be borne in mind for physicians who provide the genetic counseling and prenatal diagnosis to at-risk families.
摘要：
β-地中海贫血（β-thal）的β0/β0基因型患者通常表现为输血依赖性的β-thal主要（β-TM）表型。β-thal的病理生理学是α/β-珠蛋白链之间的不平衡。α/β-珠蛋白失衡的程度可以通过更有效的γ-珠蛋白链的合成来降低，并增加HbF水平，改变β-TM的临床严重程度。我们报告了一名中国儿童，其具有纯合β0-thal和杂合KLF1突变。该患者自6个月大以来患有中度贫血，保持基线Hb值为8.0-9.0g/dL。她的发育正常，除了身材矮小（第3百分位数），直到6岁，当脾肿大和面部骨畸形发生。尽管在β0/β0患者中KLF1表达的遗传改变可以导致一定程度的疾病缓解，我们的案例表明，不足以令人满意地改善演示文稿。为高危家庭提供遗传咨询和产前诊断的医生应牢记这一点。
