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The Journal of Pediatrics October 1992

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Erythrocyte macrocytosis in infants and children with Down syndrome T h o m a s J. S t a r c , MD From the Division of Pediatric Cardiology, Department of Pediatrics, Columbia University College of Physicians and Surgeons, New York, New York

Erythrocyte mean corpuscular volume and mean corpuscular hemoglobin levels were higher in children with Down syndrome than in normal control subjects. Reference values for mean corpuscular volume and mean corpuscular hemoglobin level derived from normal populations may be inappropriate for children with Down syndrome. These findings may have important implications for the diagnosis of iron deficiency in these children. (J PEDIATR1992;121:578-81)

Several investigators have reported erythrocyte macrocytosis in adults 1-5 and children 6, ~ with Down syndrome; however, one group reported no statistically significant increase in erythrocyte size in infants with Down syndrome. 6 The purpose of this study was to assess possible abnormalities in erythrocyte size, as well as other hematologic indexes, in young patients with Down syndrome. Because many of the children with Down syndrome in this study also had heart disease, they were compared with both normal children and children with congenital heart disease.

Submitted for publication Dec. 19, 1991; accepted April 9, 1992. Reprint requests: Thomas J. Starc, MD, Columbia University, Division of Pediatric Cardiology, 630 West 168th St., Babies Hospital, Room 102A South, New York, NY 10032.

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METHODS

Patient population Down syndrome. Sixty-three children with Down syndrome were retrospectively identified from hospital records between January 1986 and February 1990. The diagnosis was confirmed by review of the patient's chart or by interview with the patient's physician. The mean age of the children was 2.1 years and ranged from 0.33 to 6.33 years. Fifty-two children with Down syndrome had congenital heart disease, and 11 had no heart disease. Normal control group. The normal control group consisted of 196 normal children without heart disease between 0.36 and 6.8 years of age who received their primary care in a pediatric clinic in our institution. Children with chronic illnesses and those who had been treated for anemia were excluded~ Cardiac control group. The normal control group con-

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Clinical and laboratory observations

5 79

Table. Hematologic data in three groups studied Infants 3 m o to 2 yr of a g e

Age (yr) Erythrocytes (109/L) Hemoglobin (gm/dl) Hematocrit (%) MCV (fl) MCH (pg) MCHC (gm/dl)

DS (n = 33)

Normal (n = 404)

0.9 _+ 0.5 4.4 + 0.4 12.8 + 1.0 38.4 + 3.2 87.9 _+ 6.0 29.5 • 2.0 33.4 • 0.9

1.1 _+ 0.4 4.5 + 0.3 12.1 • 0.8* 35.7 • 2.2* 78.6 + 4.4* 26.6 • 2.0* 33.9 • 1.0

Children 2 to 7 yr of a g e

Cardiac (n = 25)

1.0 + 4.6 • 12.5 • 36.8 + 80.8 • 27.5 • 33.9 •

0.3 0.4 0.8 2.9 5.3~ 2.0t 1.1

DS (n = 44)

Normal (n = 95)

Cardiac (n = 33)

4.0 --+ 1.I 4.3 _+ 0.1 12.9 _+ 0.8 38.8 _+ 1.7 89.6 _+ 3.4 29.9 + 1.5 33.3 • 0.7

3.8 • 1.2 4.4 _+ 0.3 12.1 _+ 0.6* 36.0 --+ 1.7" 81.0 + 4.5* 27.6 + 1.9" 33.3 -+ 3.6

4.0 __+1.2 4.5 _ 0.4 12.7 + 0.9 37.6 _+ 2.9 82.4 _+ 4.2t 28.3 ___2.0r 33.1 • 0.8

DS, Downsyndrome;MCHC, meancorpuscularhemoglobinconcentration. *p __90ft, which exceeded the mean +2 SD for children in the

normal control group and is consistent with findings published by others, s Comparisons in the incidence of macrocytosis between children with Down syndrome and the control groups were made with the chi-square test. Differences were considered significant if p < 0.05. RESULTS Infants. The mean erythrocyte MCV was larger in infants with Down syndrome than in the normal control group and and in the cardiac control group (p

Erythrocyte macrocytosis in infants and children with Down syndrome.

Erythrocyte mean corpuscular volume and mean corpuscular hemoglobin levels were higher in children with Down syndrome than in normal control subjects...
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