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Blood, 15 March 2007, Vol. 109, No. 6, pp. 2618-2621. Prepublished online as a Blood First Edition Paper on December 5, 2006; DOI 10.1182/blood-2006-06-022848.
RED CELLS Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria1 Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT; 2 Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN; 3 Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT
Congenital erythropoietic porphyria (CEP), an autosomal recessive disorder, is due to mutations of uroporphyrinogen III synthase (UROS). Deficiency of UROS results in excess uroporphyrin I, which causes photosensitization. We evaluated a 3-year-old boy with CEP. A hypochromic, microcytic anemia was present from birth, and platelet counts averaged 70 x 109/L (70 000/µL). Erythrocyte UROS activity was 21% of controls. Red cell morphology and globin chain labeling studies were compatible with ß-thalassemia. Hb electrophoresis revealed 36.3% A, 2.4% A2, 59.5% F, and 1.8% of an unidentified peak. No UROS or
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