Leucocyte ultrastructure and folate metabolism in Down's syndrome

Gericke, G. S. ; Hesseling, P. B. ; Brink, S. ; Tiedt, F. C. (1977)

CITATION: Gericke, G. S., et al. 1977. Leucocyte ultrastructure and folate metabolism in Down's syndrome. South African Medical Journal, 51(12):369-374 .

The original publication is available at http://www.samj.org.za


Electron microscopic and hematologic investigation of peripheral blood showed a higher percentage of leukemia like nuclear ultrastructural abnormalities in the leucocytes of 30 individuals with Down's syndrome (mean 6,3%) than in normal controls (mean <1%). Most of these aberrations consisted of nuclear membrane abnormalities. Red cell folate values were very low in the group with Down's syndrome. Although mean serum folate and vitamin B12 levels were normal in this group, these individuals displayed increasing macrocytosis and decreasing serum folate levels with age. The whole group with Down's syndrome showed an increased mean corpuscular volume (MCV). The percentage of ultrastructural abnormalities did not correlate with folate levels when they were analysed individually. The existence of nuclear membrane abnormalities and folate deficiency, both of which may be associated with increased chromosome breakage, may be partly responsible for the increased leukemia risk in patients with Down's syndrome.

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