" /> Harderoporphyria - CISMeF





Preferred Label : Harderoporphyria;

ICD-11 definition : This rare erythropoietic variant form of hereditary coproporphyria is characterized by neonatal hyperbilirubinemia and hemolytic anemia, hepatosplenomegaly, and sometimes photosensitivity. Several families with harderoporphyria have been reported. Molecular analysis indicates that a coproporphyrinogen oxidase gene abnormality, K404E, was unique for this disease.;

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This rare erythropoietic variant form of hereditary coproporphyria is characterized by neonatal hyperbilirubinemia and hemolytic anemia, hepatosplenomegaly, and sometimes photosensitivity. Several families with harderoporphyria have been reported. Molecular analysis indicates that a coproporphyrinogen oxidase gene abnormality, K404E, was unique for this disease.

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29/07/2025


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