04139 Acquired congenital erythropoietic porphyria secondary to treatment for haematological malignancy
So, briefly, in 2022, of the 24 samples for porphyria request, we characterized 4 patients with porphyria.In 2023, of the 69 requests for porphyria, we characterized 12 patients with porphyria from the biochemical and molecular point of view.Last year, the National Authority of Medicines and Health Products, I.P. (INFARMED) approved the ribonucleic acid interference (RNAi) therapy (givosiran; GIVLAARI , Alnylam Pharmaceuticals, Cambridge, MA, USA).Porphyria exists, we just have to look for it!
Authors
- Liezel Griffin
- Amira Ibrahim (ORCID: https://orcid.org/0009-0002-9331-8474)
- Saliha Haji
- Denise Darby
- John G. Gilman
Institutions
- Northern Health and Social Care Trust (GB)
Publication Details
- Published
- 2024-09-01
- DOI
- https://doi.org/10.1136/bmjgast-2024-icpp.60
- Primary Topic
- Porphyrin Metabolism and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00