Article
Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia.
The Journal of clinical investigation - 1 Jul 1998
Kralovics R, Sokol L, Prchal J T
Abstract excerpt
Primary familial and congenital polycythemia (PFCP or familial erythrocytosis) is a rare proliferative disorder of erythroid progenitor cells, characterized by elevated erythrocyte mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to erythropoietin (EPO), and autosomal dominant inheritance or sporadic occurrence. A number of EPO receptor (EPOR) mutations were found in subjects with...
Topics
- Adult
- Child
- Dose-Response Relationship, Drug
- Erythroid Precursor Cells
- Erythropoietin
- Humans
- Male
- Middle Aged
- Mutation
- Polycythemia
- Polymorphism, Single-Stranded Conformational