Article
Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state.
Blood - 1 Oct 1999
Watowich S S, Xie X, Klingmuller U, Kere J, Lindlof M, Berglund S, de la Chapelle A
Abstract excerpt
Inherited mutations in the erythropoietin receptor (EPOR) causing premature termination of the receptor cytoplasmic region are associated with dominant familial erythrocytosis (FE), a benign clinical condition characterized by hypersensitivity of erythroid progenitor cells to EPO and low serum EPO (S-EPO) levels. We describe a Swedish family with dominant FE in which erythrocytosis segregates with a new...
Topics
- DNA-Binding Proteins
- Erythrocyte Count
- Erythroid Precursor Cells
- Erythropoietin
- Female
- Genes, Dominant
- Heterozygote
- Humans
- Janus Kinase 2
- Leukocyte Count
- Male
- Milk Proteins
- Mutation
- Pedigree