Blood: Iron chelation for the treatment of hemolytic anemia and skin photosensitivity for congenital erythropoietin.

!----'s central point: Iron-restricted ALAS2 reduction hypothermia effectively reduced the accumulation of radon in CEP;Abstract: Congenital erythropoietin (CEP) is a congenital erythropoietin synthesis error caused by the lack of urinary progenitor III synthase (UROS) and the accumulation of non-physiological isomer I metabolites.the clinical characteristics of CEP patients are diverse, but the severity of skin photosensitivity and chronic hemolytic anemia is usually combined, and the severity of the radon overload is related., CEP does not have a satisfactory treatment plan;a promising CEP treatment strategy is to reduce substrate therapy (SRT), which reduces the production of radon by inhibiting the first speed limit enzyme 5-aminoacetic acid synthase 2 (ALAS2) in the biosynthesis pathway of hemoglobin.in the human red blood cell model of CEP disease, after the REDUCTION of ALAS2 with RNAi mediated, Blouin and others effectively reduced radon accumulation.using alAS2's physiological iron dependence for post-transcription regulation, the researchers evaluated whether the use of deironketone to chelate iron in an in vitro and in vivo CEP mouse model could reduce the expression of ALAS2 and subsequent radon production.treating uroS defects with oxytotone and peripheral blood CD34 plus red blood cells from patients with CEP inhibited the expression of the ferrite-dependent proteins ALAS2 and IRP2 and reduced the production of radon., in the red blood cells and urine of CEP mice that were treated with titronone (drinking water: 1 mg/ml or 3 mg/ml) for 26 weeks, the accumulation of radon gradually decreased and the skin photosensitive reaction was reversed.in CEP mice treated with the highest dose of titone, hemolytic and iron overload was improved after iron chelation completely corrected anemia.study that highlighted the therapeutic potential of limiting iron to regulate CEP episotype in both mouse and human models..