Dipartimento di Scienze Biomediche e Biotecnologie-Università degli Studi di Cagliari, Ospedale Regionale Microcitemie ASL8, Cagliari, Italy.
Blood Cells Mol Dis. 2012 Jan 15;48(1):22-4. doi: 10.1016/j.bcmd.2011.10.003. Epub 2011 Nov 16.
Variations at the KLF1 gene have been associated with a series of human erythroid phenotypes including the In-(Lu) phenotype, hereditary persistence of fetal hemoglobin, congenital dyserythropoietic anemia, borderline HbA(2) and increased red blood cell protoporphyrin. Natural mutations have shown that KLF1 regulates gamma globin gene expression and its role in the switching from fetal to adult globin expression has been suggested by experimental studies. In this paper we report that subjects with S270X KLF1 mutations show a decrease of HbF levels with increasing age, supporting in vivo the role of KLF1 in hemoglobin switching in humans.
KLF1 基因突变与一系列人类红细胞表型有关，包括 In-(Lu)表型、遗传性胎儿血红蛋白持续存在、先天性红细胞生成性贫血、界值 HbA(2)和红细胞原卟啉增加。自然突变表明 KLF1 调节γ珠蛋白基因的表达，实验研究提示其在从胎儿向成人珠蛋白表达转变中的作用。本文报道 S270X KLF1 突变的个体随着年龄的增长 HbF 水平下降，这在体内支持 KLF1 在人类血红蛋白转变中的作用。
