Hematological studies in children with Down syndrome

被引：40

作者：

David, O ^{[1
]}

Fiorucci, GC ^{[1
]}

Tosi, MT ^{[1
]}

Altare, F ^{[1
]}

Valori, A ^{[1
]}

Saracco, P ^{[1
]}

Asinardi, P ^{[1
]}

Ramenghi, U ^{[1
]}

Gabutti, V ^{[1
]}

机构：

[1] UNIV TURIN, DEPT PEDIAT, TURIN, ITALY

来源：

PEDIATRIC HEMATOLOGY AND ONCOLOGY | 1996年 / 13卷 / 03期

关键词：

children; cystationine beta-synthase; Down syndrome; folate; macrocytosis;

D O I：

10.3109/08880019609030827

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Preview studies have reported erythrocyte macrocytosis In adults and children with Down syndrome (DS), the significance of which remains unclear. lye compared hematological parameters of 50 DS children aged 2 to 15 years, divided into three age groups, with those of 68 aged-matched healthy children. Patients with DS had a significantly Increased mean corpuscular volume (MCV) and hemoglobin in all groups when compared with the controls. Erythrocyte creatine content, hexokinase (Hk) activity, erythrocyte and serum folates, vitamin B-12, hapioglobin, serum iron, and ferritin were tested. All of these parameters were not significantly different from those of the control group. We conclude that macrocytosis may not be an expression of reduced red cell survival but rather of an altered folate remethylation pathway, secondary to enhanced cystathionine beta-synthase (CBS) activity, the gene for which is present on chromosome 21.

引用

页码：271 / 275

页数：5

共 11 条

[1]

ANNEREN G, 1987, HUM NUTR-CLIN NUTR, V41C, P291

[2] CYSTATHIONINE BETA SYNTHASE - GENE DOSAGE EFFECT IN TRISOMY-21 [J].