Acute aplastic anemia is a type of bone marrow failure which occurs when the body’s stem cells don’t produce enough healthy red blood cells, white blood cells, and platelets. The condition is generally diagnosed through a combination of physical signs and symptoms, laboratory tests, and imaging studies.
The main diagnostic criteria for acute aplastic anemia is an absolute neutrophil count (ANC) of less than 500/μL and a platelet count of less than 20,000/μL. In addition, the patient’s red blood cell count must be lower than the laboratory’s lower limit of normal. A bone marrow biopsy is also often performed to confirm the diagnosis.
Other diagnostic criteria used to diagnose acute aplastic anemia include: a decrease in reticulocytes (immature red blood cells), an increase in the size of red blood cells, a decrease in the red blood cell production rate, a decrease in the white blood cell production rate, an increase in the number of immature white blood cells, and an increase in the number of megakaryocytes (which produce platelets).
In addition, imaging studies may be used to detect abnormalities in bone marrow that can indicate the presence of aplastic anemia. These abnormalities may include a decrease in the number of bone marrow cells, an increase in fat cells, and an increase in the number of fibrous tissue cells.
Finally, genetic testing may be used to identify specific mutations associated with aplastic anemia. For example, mutations in the gene encoding telomerase reverse transcriptase (TERT) have been linked to aplastic anemia.
Ultimately, the diagnosis of acute aplastic anemia requires a combination of physical signs and symptoms, laboratory tests, imaging studies, and genetic testing. A bone marrow biopsy is often necessary to confirm the diagnosis.