Albertine Donker

Rare Inherited Iron and Heme-related Anemias 111 3 have been described in > 200 individuals. 93 An X-linked variant of CEP (OMIM 314050) caused by a mutation in GATA1 (OMIM 305371) on the X-chromosome has been reported for one patient. 94 GATA binding factor 1 regulates expression of UROS in erythroblasts. Clinical presentation and diagnosis CEP typically presents with passage of red urine shortly after birth. Lifelong bullous cutaneous photosensitivity to visible light starts in early infancy, leading to scarring with photomutilation. 91 Other manifestations include hypertrichosis, erythrodontia, osteoporosis and corneal ulceration with scarring. Age of onset and severity of CEP are both highly variable. 95 In a retrospective study of 29 CEP patients, 66% suffered from chronic hemolytic anemia with variable severity. 95 Iron parameters are not described in these patients. The patient with CEP caused by the GATA1 defect had a severe hypochromic microcytic, hemolytic anemia mimicking the phenotype of thalassemia intermedia, in combination with thrombocytopenia. 94 Biochemically, CEP patients have uro- and coprophorphyrin accumulation in erythrocytes, plasma, urine, faeces and increased UROS activity in erythrocytes. 91 Treatment Allogenic HSCT is the only curative option for CEP. 96 Chronic erythrocyte transfusion in severe cases to suppress erythropoiesis is described. 97 Protection of eyes and skin from sunlight is essential and minor skin trauma should be avoided. 98