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Diagnosis

The insidious nature of PA may mean that diagnosis is delayed. Diagnosis is not always straightforward and can be challenging and can take up to several years to receive a diagnosis from the onset of symptoms and almost 60% of those affected are misdiagnosed or not initially diagnosed at all. PA may be suspected when a patient's blood smear shows large, fragile, immature erythrocytes, known as megaloblasts. A diagnosis of PA first requires demonstration of megaloblastic anemia by conducting a full blood count and blood smear, which evaluates the mean corpuscular volume (MCV), as well the mean corpuscular hemoglobin concentration (MCHC). PA is identified with a high MCV (macrocytic anemia) and a normal MCHC (normochromic anemia). Ovalocytes are also typically seen on the blood smear, and a pathognomonic feature of megaloblastic anemias (which include PA and others) is hypersegmented neutrophils. Neuropsychiatric symptoms can precede hematological signs and are often the presenting manifestation of the disease.