10 research outputs found
Relação entre o estado nutricional de ferro de parturientes e seus recém-nascidos
OBJECTIVE: To determine the relationship between iron nutritional status of pregnant women and their newborns using a combination of hematological and biochemical parameters for the diagnosis of iron deficiency. METHODS: A cross-sectional study was conducted in JundiaÃ, Southeastern Brazil, in 2000. Venous blood samples collected from 95 pregnant women and from their umbilical cord and used for the determination of complete blood count, serum iron, total iron-binding capacity, serum ferritin, zinc protoporphyrin, and transferrin saturation. Women were classified into three groups: anemic, iron deficient and non-iron deficient. Statistical analysis included the Tukey-HSD test, Pearson's correlation coefficient and multiple linear regression analysis. RESULTS: Among pregnant women, 19% were anemic (97.9% mildly anemic and 2.1% moderately anemic) and 30.5% were iron deficient. No significant difference was seen in mean values of any parameter studied between newborns in the three groups (p>;0.05). Multiple linear regression analysis showed weak association between neonatal and maternal parameters. CONCLUSIONS: The iron nutritional status of pregnant women with iron deficiency or mild anemia does not seem to have a significant impact on the iron levels of their children.OBJETIVO: Determinar a relação entre os nÃveis de ferro de gestantes e seus filhos recém-nascidos, utilizando uma combinação de parâmetros hematológicos e bioquÃmicos para o diagnóstico da deficiência de ferro. MÉTODOS: Estudo transversal realizado em JundiaÃ, SP, em 2000. Amostras de sangue venoso foram coletadas de 95 gestantes e do cordão umbilical de cada uma, e utilizadas na determinação de hemograma completo, ferro sérico, capacidade total de ligação do ferro, ferritina sérica, zinco-protoporfirina, e saturação de transferrina. As mulheres foram classificadas em três grupos: anêmicas, deficientes de ferro e não-deficientes de ferro. As análises estatÃsticas utilizadas foram o teste de Tukey-HSD, o coeficiente de correlação de Pearson e regressão linear múltipla. RESULTADOS: Entre as gestantes, 19% estavam anêmicas (97,9% levemente anêmicas e 2,1% moderadamente anêmicas) e 30,5% apresentavam deficiência de ferro. Não foi observada diferença significativa nas médias dos valores dos parâmetros estudados nos recém-nascidos dos três grupos (p>;0,05). A análise de regressão linear múltipla mostrou fraca associação entre os parâmetros maternos e neonatais. CONCLUSÕES: Os nÃveis de ferro de gestantes com deficiência de ferro ou com anemia leve/moderada parecem não influenciar de forma significativa os nÃveis de ferro de seus filhos
Relationship between the iron status of pregnant women and their newborns Relação entre o estado nutricional de ferro de parturientes e seus recém-nascidos
OBJECTIVE: To determine the relationship between iron nutritional status of pregnant women and their newborns using a combination of hematological and biochemical parameters for the diagnosis of iron deficiency. METHODS: A cross-sectional study was conducted in JundiaÃ, Southeastern Brazil, in 2000. Venous blood samples collected from 95 pregnant women and from their umbilical cord and used for the determination of complete blood count, serum iron, total iron-binding capacity, serum ferritin, zinc protoporphyrin, and transferrin saturation. Women were classified into three groups: anemic, iron deficient and non-iron deficient. Statistical analysis included the Tukey-HSD test, Pearson's correlation coefficient and multiple linear regression analysis. RESULTS: Among pregnant women, 19% were anemic (97.9% mildly anemic and 2.1% moderately anemic) and 30.5% were iron deficient. No significant difference was seen in mean values of any parameter studied between newborns in the three groups (p>0.05). Multiple linear regression analysis showed weak association between neonatal and maternal parameters. CONCLUSIONS: The iron nutritional status of pregnant women with iron deficiency or mild anemia does not seem to have a significant impact on the iron levels of their children.OBJETIVO: Determinar a relação entre os nÃveis de ferro de gestantes e seus filhos recém-nascidos, utilizando uma combinação de parâmetros hematológicos e bioquÃmicos para o diagnóstico da deficiência de ferro. MÉTODOS: Estudo transversal realizado em JundiaÃ, SP, em 2000. Amostras de sangue venoso foram coletadas de 95 gestantes e do cordão umbilical de cada uma, e utilizadas na determinação de hemograma completo, ferro sérico, capacidade total de ligação do ferro, ferritina sérica, zinco-protoporfirina, e saturação de transferrina. As mulheres foram classificadas em três grupos: anêmicas, deficientes de ferro e não-deficientes de ferro. As análises estatÃsticas utilizadas foram o teste de Tukey-HSD, o coeficiente de correlação de Pearson e regressão linear múltipla. RESULTADOS: Entre as gestantes, 19% estavam anêmicas (97,9% levemente anêmicas e 2,1% moderadamente anêmicas) e 30,5% apresentavam deficiência de ferro. Não foi observada diferença significativa nas médias dos valores dos parâmetros estudados nos recém-nascidos dos três grupos (p>0,05). A análise de regressão linear múltipla mostrou fraca associação entre os parâmetros maternos e neonatais. CONCLUSÕES: Os nÃveis de ferro de gestantes com deficiência de ferro ou com anemia leve/moderada parecem não influenciar de forma significativa os nÃveis de ferro de seus filhos
Hereditary hemochromatosis: Mutations in genes involved in iron homeostasis in Brazilian patients
Background: p.C282Y mutation and rare variants in the HFE gene have been associated with hereditary hemochromatosis (HH). HH is also caused by mutations in other genes, such as the hemojuvelin (HJV), hepcidin (HAMP), transferrin receptor 2 (TFR2) and ferroportin (SLC40A1). The low rate homozygous p.C282Y mutation in Brazil is suggestive that mutations in non-HFE genes may be linked to HH phenotype. Aim: To screen exon-by-exon DNA sequences of HFE, HJV, HAMP, TFR2 and SLC40A1 genes to characterize the molecular basis of HH in a sample of the Brazilian population. Materials and methods: Fifty-one patients with primary iron overload (transferrin saturation >= 50% in females and >= 60% in males) were selected. Subsequent bidirectional DNA sequencing of HFE, HJV, HAMP, TFR2 and SLC40A1 exons was performed. Results: Thirty-seven (72.5%) out of the 51 patients presented at least one HFE mutation. The most frequent genotype associated with HH was the homozygous p.C282Y mutation (n = 11, 21.6%). In addition, heterozygous HFE p.S65C mutation was found in combination with p.H63D in two patients and homozygous HFE p.H63D was found in two patients as well. Sequencing in the HJV and HAMP genes revealed HJV p.E302K, HJV p.A310G, HJV p.G320V and HAMP p.R59G alterations. Molecular and clinical diagnosis of juvenile hemochromatosis (homozygous form for the HJV p.G320V) was described for the first time in Brazil. Three TFR2 polymorphisms (p.A75V, p.A617A and p.R752H) and six SLC40A1 polymorphisms (rs13008848, rs11568351, rs11568345, rs11568344, rs2304704, rs11568346) and the novel mutation SLC40A1 p.G204S were also found. Conclusions: The HE p.C282Y in homozygosity or in heterozygosity with p.H63D was the most frequent mutation associated with HH in this sample. The HJV p.E302K and HAMP p.R59G variants, and the novel SLC40A1 p.G2045 mutation may also be linked to primary iron overload but their role in the pathophysiology of HH remain to be elucidated. (C) 2011 Elsevier Inc. All rights reserved.Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)[2008/54131-0]CNPq, Brazil[476703/2004-2