Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation – a case report
We document severe pulmonary arterial hypertension in a patient of congenital sideroblastic anemia from PUS1 gene. We hypothesis that cross talk with TGFb pathways might occur in PUS1 mutation, and that might cause severe PAH. This observation might have therapeutic implications.
Authors
- Riyaz Charaniya (ORCID: https://orcid.org/0000-0002-9330-987X)
- Shyam Sunder Kothari (ORCID: https://orcid.org/0000-0002-4463-5433)
- Rujuta Parikh (ORCID: https://orcid.org/0000-0003-0686-9586)
- Vishal Sharma (ORCID: https://orcid.org/0000-0002-2755-6100)
- Jayal Shah
- Salil Vaniawala
Institutions
- Ahmedabad Civil Hospital (IN)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-08-15
- DOI
- https://doi.org/10.1186/s12920-024-01983-8
- Citations
- 2
- Primary Topic
- Heme Oxygenase-1 and Carbon Monoxide
- Type
- article
- Field-Weighted Citation Impact
- 0.47