Clinical characteristics of a Turkish family with congenital erythrocytosis due to an EPOR mutation: Is routine phlebotomy indicated in children and adolescents?

Here we present two siblings, a 9-year-old boy and a 15-year-old girl at presentation, with congenital erythrocytosis due to an EPOR c.1316G>A (p.Trp439Term) mutation. The patients had nausea, abdominal pain, and headache when they presented with hemoglobin levels of 23 g/dL and 19.4 g/dL, respec...

Descripción completa

Detalles Bibliográficos
Autores principales: Sarper, Nazan, Zengin, Emine, Gelen, Sema Aylan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kare Publishing 2020
Materias:
Case Report / Olgu Sunumu
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536457/
https://www.ncbi.nlm.nih.gov/pubmed/33061762
http://dx.doi.org/10.14744/TurkPediatriArs.2019.65481

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536457/
https://www.ncbi.nlm.nih.gov/pubmed/33061762
http://dx.doi.org/10.14744/TurkPediatriArs.2019.65481

Ejemplares similares