Albertine Donker

Rare Inherited Iron and Heme-related Anemias 119 3 Table 1. Continued 3F. Congenital Erythropoietic Porphyria (CEP) due to defects in UROS or GATA1 Clinical presentation and diagnosis • In patients with an unexplained hemolytic anemia in combination with a painful cutaneous photosensitivity autosomal recessive CEP has to be considered, both in men and women. • In cases with combined cutaneous photosensitivity and severe microcytic, hypochromic hemolytic anemia X-linked CEP should be considered. • Since disease severity and onset of first symptoms is highly variable, CEP should be considered both in children and adults in case of the above-mentioned phenotype. • Diagnosis should be based on increased urinary levels of uroporphyrin I and coproporphyrin I and confirmed by decreased URO-synthase activity in the erythrocytes or the presence of pathogenic homozygous or compound heterozygous mutations in UROS or in GATA1 . Treatment • In patients with CEP, allogenic HSCT should be considered as the only curative treatment • Chronic erythrocyte transfusions are recommended as a symptomatic treatment, and iron chelation is recommended according to guidelines for chronic transfusions. Family screening* • Recommendations for CEP due to UROS defects are identical to those described in 1C. • Recommendations are identical to XLDPP due to gain-of-function ALAS2 mutations, see 3E. *, Recommendations on family screening are based on Borry et al 99 , Godard et a l 100