Severe iron deficiency may mask the erythrocytosis associated with polycythemia rubra vera (PRV).

Clinical and laboratory features:

(1) severe iron deficiency

(2) anemia

(3) variable elevation of white blood cell count without evidence of infection

(4) variable elevation of the platelet count (nonspecific since it can be seen with iron deficiency)


The diagnosis may depend on:

(1) marked erythrocytosis with adequate iron replacement

(2) bone marrow histology consistent with a myeloproliferative disorder

(3) low serum erythropoietin

(4) presence of JAK2 mutation (JAK2V617F or exon 12 mutation)

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