Induced pluripotent stem cell-based modeling of hemolytic anemia in patients with compound heterozygous KLF1 mutations reveals defective erythroid differentiation.
Ponthip Pratumkaew, Methichit Wattanapanitch, Vip Viprakasit, Pakpoom Kheolamai, Surapol Issaragrisil
Abstract
Transfusion-dependent hemolytic anemia caused by compound heterozygosity due to mutations in the erythroid Krüppel-like factor 1 (KLF1) gene is a rare and severe blood disorder. The clinical manifestations of the patient are mainly related to erythroid cells. Moreover, the roles of the identified KLF1 mutations in the pathophysiology of this disease remain unclear due to the lack of an appropriate study model. The advent of genome editing technology combined with the generation of patient-specific induced pluripotent stem cells (iPSCs) may provide a better understanding of the molecular mechanisms underlying this disease in an in vitro system and offer a novel therapeutic approach in the future.