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Search: authors:"Bilguis M. Al-Eryani"

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Neonatal hemolytic anemia does not always indicate thalassemia: a case report

Background Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, ...