Thiamine-responsive megaloblastic anemia syndrome with novel compound heterozygous SLC19A2 mutations and thrombotic events: a case report
This case broadens the genetic and clinical spectrum of thiamine-responsive megaloblastic anemia, highlighting the importance of genetic testing in young patients with the classic triad and showing that early thiamine therapy can markedly improve outcomes.
Authors
- Heidi Ángela Fernández (ORCID: https://orcid.org/0000-0002-2371-2604)
- Fernando Naranjo-Saltos (ORCID: https://orcid.org/0000-0002-9545-2477)
- Rossana Ruiz-Urbaez
- Carlos Reyes-Silva
- Jhonatan Guamán
- Mauricio Carrión
- Carlos Rojas
- Francisco Xavier Jiménez
Institutions
- Universidad Técnica de Manabí (EC)
- Hospital de Especialidades (MX)
- Noguchi Hospital (JP)
- Rockaway Waterfront Alliance (US)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2026-03-16
- DOI
- https://doi.org/10.1186/s13256-026-05960-w
- Primary Topic
- Alcoholism and Thiamine Deficiency
- Type
- article
- Field-Weighted Citation Impact
- 0.00