Hematocrit The hematocrit (HCT) is expressed as the percent of a blood

sample occupied by intact RBC. Polycythemia in the adult patient is

considered to be present when the HCT is >48 or >52 percent in women
and men, respectively.

Hemoglobin concentration The hemoglobin concentration (HGB) is

expressed in grams per 100 mL of whole blood or in grams per liter of
whole blood. Polycythemia in the adult is considered to be present when
the HGB is >16.5 or >18.5 g/dL, or >165 or >185 g/L in women and men,
respectively.

Red blood cell count The red blood cell (RBC) count is expressed as the
number of RBC per microL or liter of whole blood. The normal RBC count is
approximately 5 x 106 cells per microL or 5 x 1012 cells per L. It is the least
often used of the three tests to suggest polycythemia, since patients with
thalassemia minor may have an elevated RBC count, but a reduced HCT or
HGB due to the presence of an increased number of small (microcytic),
poorly hemoglobinized (hypochromic) red cells.
TERMINOLOGY The three measurements listed above (red blood cell [RBC]
count, hemoglobin [HGB], and hematocrit [HCT]) are concentrations and
therefore dependent upon the plasma volume as well as the RBC mass (RCM).
Relative polycythemia An isolated decrease in plasma volume can elevate
the HGB, HCT, and RBC count. The state of chronically reduced plasma volume
with elevated HGB or HCT has been called Gaisbock's disease, spurious
polycythemia, stress erythrocytosis, apparent polycythemia, and
pseudopolycythemia, although many may be examples of smokers' polycythemia
Absolute polycythemia In absolute polycythemia (erythrocytosis) there is an
increased RCM. Patients are further categorized into primary and secondary
forms
Primary polycythemia Primary polycythemia is caused by an acquired or
inherited mutation leading to an abnormality within RBC progenitors; it includes
polycythemia vera (PV) and rare familial variants (eg, activating mutations of the
erythropoietin receptor, Chuvash polycythemia
Idiopathic erythrocytosis has been used to categorize patients with primary

polycythemia who do not fulfill conventional criteria for the diagnosis of PV [7],
including negativity for the exon 14 and exon 12 JAK2 mutations
Secondary polycythemia Secondary polycythemia is caused by a circulating
factor stimulating erythropoiesis, usually erythropoietin (Epo). It is most often due
to an Epo response to hypoxia, but can also result from an Epo-secreting tumor.
Combined polycythemia Patients may have an increased RCM as well as a
reduced plasma volume, a combination most commonly seen in smokers (ie,
"smokers' polycythemia")
Inapparent polycythemia If the RCM and plasma volume are equally
increased, HGB, HCT, and RBC count remain normal .Polycythemia can only be
detected via blood volume studies.
Several basic steps towards this evaluation are described below [At a minimum,
the following should be obtained in all patients:
History and physical examination
Pulse oximetry and/or arterial oxygen saturation at rest and after exercise
Complete blood count
Urinalysis
Liver function studies
Chest x-ray
Symptoms due to the underlying polycythemia are related to the increased
viscosity of blood (hyperviscosity) and may include any or all of the following:
chest and abdominal pain, myalgia and weakness, fatigue, headache, blurred
vision, transient loss of vision, paresthesias, slow mentation and/or a sense of
depersonalization.

Symptoms suggesting the presence of underlying pulmonary disease include

shortness of breath, dyspnea on exertion, chronic cough, history of cyanosis, and
hypersomnolence with unintentional sleep.

Symptoms suggesting the diagnosis of polycythemia vera (PV) include postbath pruritus, erythromelalgia, gout, arterial or venous thromboses, hemorrhage,
and early satiety due to the presence of splenomegaly.

According to 2008 revised World Health Organization (WHO) guidelines,

diagnosis of PV requires the presence of both major criteria and one minor
criterion or the presence of the first major criterion together with two minor
criteria.
1
2

Major WHO criteria are as follows:

Hemoglobin > 18.5g/dL in men and > 16.5g/dL in women, or other evidence of
increased red blood cell volume
Presence of JAK2617V F or other functionally similar mutation, such as JAK2
exon 12 mutationMinor WHO criteria are as follows:
See the list below:
Bone marrow biopsy showing hypercellularity for age with trilineage growth
(panmyelosis) with prominent erythroid, granulocytic, and megakaryocytic
proliferation
Serum erythropoietin level below the reference range for normal
Endogenous erythroid colony formation in vitro.