familial erythrocytosis
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Genetics
- frameshift mutation c.32delG in exon 2 initiates excess production of erythropoietin from what is normally a noncoding erythropoietin mRNA transcribed from an alternative promoter located in intron 1[1]
Laboratory
- complete blood count shows
- increased serum red blood cell mass
- elevated hemoglobin & hematocrit
- no increase in platelets nor leukocytes
- serum erythropoietin may be elevated*
* not so in familial erythrocytosis type 1
More general terms
More specific terms
- familial erythrocytosis type 1
- familial erythrocytosis type 2; VHL-dependent polycythemia; Chuvash type polycythemia
- familial erythrocytosis type 3
References
- ↑ 1.0 1.1 Zmajkovic J, Lundberg P, Nienhold R et al A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. N Engl J Med 2018; 378:924-930. March 8, 2018 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/29514032 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMoa1709064