From the Guidelines
Acanthocytes, Burr cells, elliptocytes, and target cells are significant in diagnosing various hematological disorders, including hereditary hemolytic anemias, such as pyruvate kinase deficiency.
Clinical Significance of Abnormal Red Blood Cells
- Acanthocytes are associated with liver disease, neuroacanthocytosis, and abetalipoproteinemia 1
- Burr cells, also known as echinocytes, are seen in uremia, pyruvate kinase deficiency, and other conditions 1
- Elliptocytes are characteristic of hereditary elliptocytosis, a disorder of the red blood cell membrane 1
- Target cells are found in hemoglobinopathies, such as sickle cell disease and thalassemia, as well as in liver disease and other conditions 1
Diagnostic Approach
The presence of these abnormal red blood cells can aid in the diagnosis of underlying hematological disorders. For example, in pyruvate kinase deficiency, the diagnosis is ultimately dependent on the demonstration of decreased enzyme activity and/or the identification of causative mutations in the PKLR gene 1.
Clinical Implications
Patients with pyruvate kinase deficiency may present with chronic hemolysis, anemia, and other complications, such as iron overload, gallstones, and pulmonary hypertension 1.
Laboratory Findings
Laboratory findings, including peripheral blood smear, reticulocyte count, lactate dehydrogenase, and bilirubin levels, can support the diagnosis of hematological disorders 1. In contrast, Burr cells are also seen in other conditions, such as uremia, and are not specific to pyruvate kinase deficiency 1.
From the Research
Clinical Significance of Acanthocytes, Burr Cells, Elliptocytes, and Target Cells
The clinical significance of acanthocytes, Burr cells, elliptocytes, and target cells in hematological disorders is as follows:
- Acanthocytes are associated with spur cell anemia, a rare condition with an ominous prognosis, and are characterized by the presence of spiculated erythrocytes with a shortened life span, leading to anemia that is unresponsive to transfusion 2.
- Acanthocytes are a distinct structural entity compared to echinocytes, and their differential diagnosis is important in certain neurologic diseases, such as chorea-acanthocytosis 3.
- Morphologic changes in red blood cells, including acanthocytes, Burr cells, elliptocytes, and target cells, can be used as a diagnostic tool in clinical haematology and haematopathology 4.
- Acanthocyte sedimentation rate can be used as a diagnostic biomarker for neuroacanthocytosis syndromes, such as chorea-acanthocytosis and McLeod syndrome 5.
- Automated erythrocyte classification using image processing techniques can separate red blood cells into distinct subgroups, including acanthocytes, Burr cells, elliptocytes, and target cells, which can be used for the diagnosis of anemia 6.
Specific Cell Types
- Acanthocytes: associated with spur cell anemia and neuroacanthocytosis syndromes 2, 3, 5.
- Burr cells: associated with certain hematological disorders and can be separated from other red blood cell types using image processing techniques 6.
- Elliptocytes: can be separated from other red blood cell types using image processing techniques and are associated with certain hematological disorders 6.
- Target cells: can be separated from other red blood cell types using image processing techniques and are associated with certain hematological disorders 6.