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Updated: Sep 28, 2026
Workflow for Automated Digital Peripheral Blood and Bone Marrow Cytomorphology, With Consideration of Critical Cellular Misclassifications
Published on: July 28, 2026
Importance of screening the peripheral smear
Sarala Rajajee1, Malathi Sathyasekaran, Janani Shankar
1Department of Pediatric Medicine, Kanchi Kamakoti Childs Trust Hospital, Chennai, India. saralarajajee@yahoo.com
Insights
Acanthocytes on peripheral smear indicate a potential diagnosis of abetalipoproteinemia, a rare genetic disorder. Early detection through simple blood tests can streamline diagnosis and management.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Abetalipoproteinemia is a rare autosomal recessive disorder affecting lipid absorption and transport.
- Failure to thrive from infancy suggests a significant underlying metabolic or genetic condition.
Observation:
- A 5-year-old boy presented with failure to thrive and a family history of sibling death and maternal abortions.
- Peripheral blood smear revealed over 50% acanthocytes, a distinctive red blood cell morphology.
- Lipid profile and lipoprotein electrophoresis showed hypolipidemia and an absent beta-lipoprotein band.
Findings:
- Jejunal mucosal biopsy confirmed abetalipoproteinemia by revealing lipid-laden enterocytes.
- The presence of acanthocytes is a key indicator for suspecting this condition.
Implications:
- Highlights the diagnostic utility of peripheral smear examination in identifying rare genetic disorders.
- Emphasizes the importance of a streamlined diagnostic approach for complex pediatric cases.
- Early diagnosis of abetalipoproteinemia is crucial for managing associated complications and improving patient outcomes.
Abstract:
A 5-year-old boy presented with history of failure to thrive from infancy. There was a history of one sibling death due to similar problems and history of severe abortions in the mother. Routine examination of peripheral smear revealed more than 50% acanthocytes. Based on this tests were streamlined to doing lipid profile and Lipo protein electrophoresis which revealed hypolipidemia and absent beta hypo protein band. Jejunal mucosal biopsy confirmed the diagnosis of A Beta Lipo proteinemia which revealed lipid laden enterocytes. This case illustrates the importance of simple tests like peripheral smear examination in streamlining further tests in the diagnosis of major diseases.
