β-地中海贫血症中的胎儿血红蛋白调控。
Fetal Hemoglobin Regulation in Beta-Thalassemia.
机构信息
Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA; Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA, USA; Karp Family Research Laboratories, Boston Children's Hospital, 1 Blackfan Street, Boston, MA 02115, USA. Electronic address: https://twitter.com/realhenrylu.
Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA; Karp Family Research Laboratories, Boston Children's Hospital, 1 Blackfan Street, Boston, MA 02115, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA; Harvard Stem Cell Institute, Cambridge, MA, USA.
出版信息
Hematol Oncol Clin North Am. 2023 Apr;37(2):301-312. doi: 10.1016/j.hoc.2022.12.002.
β-thalassemia is caused by mutations that reduce β-globin production, causing globin chain imbalance, ineffective erythropoiesis, and consequent anemia. Increased fetal hemoglobin (HbF) levels can ameliorate the severity of β-thalassemia by compensating for the globin chain imbalance. Careful clinical observations paired with population studies and advances in human genetics have enabled the discovery of major regulators of HbF switching (i.e. BCL11A, ZBTB7A) and led to pharmacological and genetic therapies for treating β-thalassemia patients. Recent functional screens using genome editing and other emerging tools have identified many new HbF regulators, which may improve therapeutic HbF induction in the future.
β-地中海贫血是由降低β-珠蛋白生成的突变引起的，导致珠蛋白链失衡、无效造血和随后的贫血。增加胎儿血红蛋白 (HbF) 水平可以通过补偿珠蛋白链失衡来减轻β-地中海贫血的严重程度。仔细的临床观察与人群研究和人类遗传学的进展使人们能够发现 HbF 开关的主要调节剂（即 BCL11A、ZBTB7A），并为治疗β-地中海贫血患者的药物和基因治疗提供了依据。最近使用基因组编辑和其他新兴工具进行的功能筛选已经确定了许多新的 HbF 调节剂，这可能会在未来提高治疗性 HbF 诱导的效果。
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