Catalog

Harderoporphyria

No MMS code

Link to WHO Definition

Harderoporphyria – http://id.who.int/icd/entity/1664486132

This rare erythropoietic variant form of hereditary coproporphyria is characterised by neonatal hyperbilirubinemia and haemolytic anaemia, 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.