Pediatr Blood Cancer 2005;45:237
MATTERS OF MORPHOLOGYAbetalipoproteinemia:
Importance of the Peripheral Blood Smear
F. Demircioglu, MD,1 H. Oren, MD,2* S. Yılmaz, MD,2 N. Arslan, MD,3
O. Gurcu, MD,1 and G. I:rken, MD
2
A 21-month-old girl was referred to our hospital withthe chief complaints of abdominal distention, diarrhea,weakness, and pallor in August 2004. Her mother andfather were relatives. Her mother had the diagnosis ofbeta thalassemia trait. Her sister who had similarsymptoms in infancy, died because of an unknown diseasewith progressive neurologic symptoms. On physicalexamination, the patient weight and height were underthe 3rd centile. She had fatigue and pallor. Laboratoryevaluations demonstrated a Hb level of 10.1 g/dl,hematocrit 29.3%, WBC 10� 109/L, platelets 453�109/L, MCV 65.4 fl, MCH 22.4 pg, MCHC 34.3 g/dl,RDW 22.4, RBC 4.48� 1012/L, and reticulocyte 1.5%.Hypochromia, microcytosis, anisocytosis, poikilocytosis,target cells, and diffuse acanthocytosis (which led us todiagnosis) were seen in peripheral blood smear (Fig. 1).Hemoglobin electrophoresis demonstrated beta thalasse-mia trait. Results of other laboratory tests were as follows:PT 16.8 sec, APTT 32 sec, aspartate aminotransferase 59U/L, alanine aminotransferase 42U/L, fibrinogen 2.84 g/l,total cholesterol 28 mg/dl, triglyceride 7 mg/dl, HDLcholesterol 27 mg/dl, LDL cholesterol 2 mg/dl, apo A-150,01 mg/dl, and apo B <9.98 mg/dl. The clinical andlaboratory findings demonstrated that the patient hadabetalipoproteinemia. Acanthocytosis and anemia may bethe first signs of this disorder [1]. Decrease in thecholesterol levels in the erythrocyte membrane causesresulting in the formation of acanthocytes [2]. Peripheral
blood smear of a patient may play an important role in thediagnosis.
REFERENCES
1. Rajajee S, Sathyasekaran M, Shankar J, et al. Importance of
screening the peripheral smear. Ind J Pediatr 2002;69:821–822.
2. Stevenson VL, Hardie RJ. Acanthocytosis and neurological
disorders. J Neurol 2001;248:87–94.
� 2005 Wiley-Liss, Inc.DOI 10.1002/pbc.20360
Fig. 1. Acanthocytosis in peripheral blood smear of the patient.
——————1Department of Pediatrics, Dokuz Eylul University Faculty of
Medicine, Izmir, Turkey
2Department of Pediatric Hematology, Dokuz Eylul University Faculty
of Medicine, Izmir, Turkey
3Department of Pediatric Gastroenterology and Metabolism, Dokuz
Eylul University Faculty of Medicine, Izmir, Turkey
——————F. Demircioglu and O. Gurcu are the Research Assistant in Pediatrics;
H. Oren and G. Irken, Professor of Pediatrics, Pediatric Hematologist;
S. Yılmaz, Assistant Professor of Pediatrics and Fellow in Pediatric
Hematology; and N. Arslan, Assistant Professor of Pediatrics.
*Correspondence to: Prof., Dr. H. Oren, Department of Pediatric
Hematology, Dokuz Eylul University Faculty of Medicine, 35340
Balcova, Izmir, Turkey. E-mail: [email protected]
Received 28 December 2004; Accepted 29 December 2004
