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Acanthocytosis Follow-up

  • Author: Pedro A de Alarcon, MD; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
Updated: Oct 15, 2015

Further Outpatient Care

Consider diet restrictions and nutritional supplementations. Regular monitoring of vitamin A, vitamin E, folate levels, iron studies, and other parameters is recommended, depending on the underlying condition.



Genetic counseling is indicated in cases of abetalipoproteinemia or hypobetalipoproteinemia, neuroacanthocytosis, McLeod, and In(Lu) Lu(a-b-) red cell phenotype.



Acanthocytosis may induce variable degrees of hemolytic anemia, depending on the underlying condition.

In abetalipoproteinemia, complications include chronic mild hemolysis with mild anemia and a moderately shortened red cell survival. Occasionally, anemia is more severe because of secondary iron and folate deficiency. Malabsorption or celiac syndrome leads to steatorrhea and failure to thrive in the first year of life. Retinitis pigmentosa develops within the first decade of life with night blindness and progressive loss of visual field and acuity. Ophthalmoplegia may eventually develop. Neurologic changes begin in the first-to-second decade of life, are progressive, and include sensory disturbances, movement disorders, muscle weakness, and mental retardation. Ataxic neurologic disease is progressive, with loss of ambulation by the third decade of life.

In neuroacanthocytosis, including X-linked McLeod syndrome, hematologic manifestations are usually minimal; however, neurologic symptoms are progressive and manifest in the second-to-fifth decade of life, except for pantothenate kinase-associated neurodegeneration, which manifests in childhood. Neurologic symptoms include dyskinesias, cognitive deterioration, and progressive neurodegeneration, mainly of the basal ganglia. McLeod syndrome may also lead to generalized seizures, arrhythmias, and dilated cardiomyopathy.

Red cells of individuals with the McLeod blood group (who are prone to develop McLeod syndrome) lack Kx antigen, a membrane precursor of the Kell antigen, and may become sensitized, requiring McLeod red cells for transfusions.



Complications of abetalipoproteinemia progress to cause death in the second or third decade. The clinical course of spur cell anemia is progressive and usually fatal because of end-stage liver disease. Life expectancy is reduced in the various forms of neuroacanthocytosis.


Patient Education

The Genetics Home Reference from the US National Library of Medicine provides excellent updated information and multiple links for further study on abetalipoproteinemia.

Contributor Information and Disclosures

Pedro A de Alarcon, MD William H Albers Professor and Chair, Department of Pediatrics, University of Illinois College of Medicine at Peoria

Pedro A de Alarcon, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American Pediatric Society, American Society of Hematology, American Society of Pediatric Hematology/Oncology, International Society of Hematology, International Society on Thrombosis and Haemostasis, Medical Society of the State of New York, New York Academy of Sciences, Society for Pediatric Research, Southern Society for Pediatric Research, Children's Oncology Group, Eastern Society for Pediatric Research, National Hemophilia Foundation, International Society for Experimental Hematology, Virginia Chapter of The American Academy of Pediatrics, Virginia Pediatric Society, American Federation for Clinical Research

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Steven K Bergstrom, MD Department of Pediatrics, Division of Hematology-Oncology, Kaiser Permanente Medical Center of Oakland

Steven K Bergstrom, MD is a member of the following medical societies: Alpha Omega Alpha, Children's Oncology Group, American Society of Clinical Oncology, International Society for Experimental Hematology, American Society of Hematology, American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA Executive Vice President, Chief Medical and Academic Officer, Renown Heath

Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American College of Healthcare Executives, American Society of Pediatric Hematology/Oncology, Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

J Martin Johnston, MD Associate Professor of Pediatrics, Mercer University School of Medicine; Director of Hematology/Oncology, The Children's Hospital at Memorial University Medical Center; Consulting Oncologist/Hematologist, St Damien's Pediatric Hospital

J Martin Johnston, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Hematology/Oncology, International Society of Paediatric Oncology

Disclosure: Nothing to disclose.


Ulrike M Reiss, MD Associate Member, Department of Hematology, St Jude Children's Research Hospital

Disclosure: Nothing to disclose.

Mary E Ross, MD, PhD Assistant Professor, Department of Pediatrics, University of Illinois College of Medicine; Clinical Attending, St Jude Domestic Affiliate Clinic and Children’s Hospital of Illinois; Adjunct Faculty, St Jude Children’s Research Hospital

Disclosure: Nothing to disclose.

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This image (magnified X 2000) shows the spiculated thorny RBCs (acanthocytes) as observed in an individual with abetalipoproteinemia. These are indistinguishable from the acanthocytes shown in the next image, which are observed in an individual with spur cell hemolytic anemia. Used with permission from Little, Brown and Company.
This image (magnified X 2000) demonstrates acanthocytes in an individual with spur cell hemolytic anemia associated with alcoholic cirrhosis. Acanthocytes, unlike echinocytes or burr cells, have fewer spicules. Used with permission from Little, Brown and Company.
This image (magnified X 2000) shows echinocytes, or burr cells, a universal feature of uremia. The spicules of acanthocytes vary in length and width and project nonuniformly from the cell surface, while burr cells have regularly spaced, smoothly rounded crenulations. The second morphologic feature of RBCs in an individual with uremia is the presence of ellipsoid cells. Used with permission from Little, Brown and Company.
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