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These studies suggest that anemia can be diagnosed using various methods including serum ferritin radioimmunoassay, complete blood count, red cell indices, reticulocyte count, point-of-care tests, and advanced techniques like molecular testing and next-generation sequencing.
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Anemia is a prevalent health issue globally, affecting both industrialized and developing nations. Laboratory testing is crucial for diagnosing anemia, as clinical symptoms alone may not always provide a clear diagnosis, especially when multiple underlying conditions are present. This article synthesizes the key laboratory tests used to diagnose anemia, highlighting their effectiveness and application.
The initial step in diagnosing anemia typically involves a complete blood count (CBC) with red cell indices. This test provides essential information about the size, volume, and hemoglobin content of red blood cells, which can offer clues to the type of anemia present . For instance, microcytic anemia is characterized by small red blood cells, often indicating iron deficiency, while macrocytic anemia involves larger red blood cells, which can be due to vitamin B12 or folate deficiency.
Serum ferritin radioimmunoassay is one of the most powerful tests for diagnosing iron-deficiency anemia. It measures the amount of stored iron in the body, with a high diagnostic accuracy (area under the receiver operating characteristic curve of 0.95). Additional iron studies, including serum iron level, total iron-binding capacity, and transferrin saturation, help differentiate between various types of microcytic anemias.
The reticulocyte count is a useful screening tool for assessing bone marrow function and the body's response to anemia. Elevated reticulocyte counts can indicate hemolysis or blood loss, while low counts may suggest bone marrow suppression or ineffective erythropoiesis .
In certain cases, especially when the cause of anemia is not clear from initial tests, a bone marrow examination may be necessary. This invasive procedure can provide definitive information about bone marrow function and the presence of abnormal cells.
Recent advancements have led to the development of point-of-care (POC) tests for anemia, which offer rapid and cost-effective screening options. For example, a disposable POC test using a single drop of blood can provide visual and color-based results that correlate with hemoglobin levels, making it suitable for self-monitoring by chronically anemic patients. Another innovative approach involves using aqueous multiphase systems (AMPS) for density-based fractionation of red blood cells, offering a low-cost and rapid diagnostic method.
Emerging technologies are also exploring non-invasive methods for anemia detection. A smartphone app that analyzes photos of fingernail beds can estimate hemoglobin levels with high accuracy, providing a convenient and accessible screening tool for anemia.
For hemolytic anemias and other complex cases, molecular testing, including next-generation sequencing, can identify genetic causes and provide a more comprehensive diagnosis. This approach is particularly useful for diagnosing thalassemias and other hemoglobinopathies .
Laboratory tests play a vital role in diagnosing anemia, with a range of options available from traditional blood tests to innovative point-of-care and non-invasive methods. Serum ferritin remains a cornerstone for diagnosing iron-deficiency anemia, while CBC, reticulocyte counts, and bone marrow examinations provide critical insights into other types of anemia. Advances in technology continue to enhance the accuracy and accessibility of anemia diagnostics, offering new hope for effective management and treatment.
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