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familial erythrocytosis
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
a) increased serum red blood cell mass
b) elevated hemoglobin & hematocrit
c) no increase in platelets nor leukocytes
- serum erythropoietin may be elevated*
* not so in familial erythrocytosis type 1
Specific
familial erythrocytosis type 1
familial erythrocytosis type 2; VHL-dependent polycythemia; Chuvash type polycythemia
familial erythrocytosis type 3
General
erythrocytosis
genetic disease of the blood/bone marrow
References
- 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
PMID: 29514032
http://www.nejm.org/doi/full/10.1056/NEJMoa1709064