Objective:To assess the association between genetic variants of transferrin receptor 2(TFR2)exon 4 and anemia status and to describe the expression levels of several cytokines,hepcidin,soluble transferrin receptor and...Objective:To assess the association between genetic variants of transferrin receptor 2(TFR2)exon 4 and anemia status and to describe the expression levels of several cytokines,hepcidin,soluble transferrin receptor and erythropoietin.Methods:Institutional based comparative study was done randomly to recruit 106 pregnant women who attended antenatal care in three different health centers in Boyolali Regency,Central Java from May 2015 to September 2015.DNA was extracted from peripheral blood samples of selected pregnant women and sequencing was done for TFR2 exon 4.Furthermore,enzyme-linked immunosorbent assay was conducted to measure the expression levels of interleukin 6,interleukin 4,transforming growth factorβand iron-metabolism related proteins such as hepcidin,soluble transferrin receptor,and erythropoietin.Gene alignment was performed by using a CLUSTAL W program.Collected data were analyzed statistically by using parametric and nonparametric tests with Statistical Product and Service Solutions(SPSS)20.0 for Windows.Results:Three novel genetic variants from TFR2 exon 4(position 603,605 and 606)were associated with anemia status.Moreover,the expression levels of interleukin 6,interleukin 4,transforming growth factorβand erythropoietin were higher in anemic pregnant women than those of nonanemic pregnant women but only erythropoietin level reached statistical significance.These results were followed by decreases of hepcidin and soluble transferrin receptor levels.Conclusions:Various factors contribute to anemia prevalence among pregnant women in Boyoali Regency,Central Java,Indonesia.Our novel findings showed that TFR2 exon 4 has 3 mutational sites in position 603,605 and 606.These novel genetic variants may provide a new insight into the role of TFR2 in anemia.展开更多
Hypochromic microcytic anaemia includes iron deficiency, anaemia of chronic disorders, beta thalassemia trait and sideroblastic anaemia. To rule out the cause of hypochromic microcytic anaemia is a diagnostic difficul...Hypochromic microcytic anaemia includes iron deficiency, anaemia of chronic disorders, beta thalassemia trait and sideroblastic anaemia. To rule out the cause of hypochromic microcytic anaemia is a diagnostic difficulty. The conventional laboratory tests used for diagnosis have few disadvantages. Serum transferrin receptor (sTfR) is the most reliable method for assessment of body iron. Eighty four children were included in this study. They were further divided into four groups: iron deficiency anaemia (IDA), anaemia of chronic disorders (ACD), beta thalassemia trait (β TT) and controls. Children withIDAand ACD were diagnosed on the basis of history and serum iron profile. Subjects with β TT had HbA2 > 3.5%. sTfR were performed on all subjects. Level of sTfR in patients withIDAwas 5.79 μg/ml ± 1.3 μg/ml. In patients with anaemia of chronic disorders (ACD), β thalassemia trait and controls mean sTfR were 2.18 μg/ml ± 0.6 μg/ml, 2.1μg/ml ± 0.5 μg/ml and 2.0 μg/ml ± 0.5 μg/ml respectively. These results show level of sTfR was raised in IDA when compared with controls or ACD and β TT (p展开更多
文摘Objective:To assess the association between genetic variants of transferrin receptor 2(TFR2)exon 4 and anemia status and to describe the expression levels of several cytokines,hepcidin,soluble transferrin receptor and erythropoietin.Methods:Institutional based comparative study was done randomly to recruit 106 pregnant women who attended antenatal care in three different health centers in Boyolali Regency,Central Java from May 2015 to September 2015.DNA was extracted from peripheral blood samples of selected pregnant women and sequencing was done for TFR2 exon 4.Furthermore,enzyme-linked immunosorbent assay was conducted to measure the expression levels of interleukin 6,interleukin 4,transforming growth factorβand iron-metabolism related proteins such as hepcidin,soluble transferrin receptor,and erythropoietin.Gene alignment was performed by using a CLUSTAL W program.Collected data were analyzed statistically by using parametric and nonparametric tests with Statistical Product and Service Solutions(SPSS)20.0 for Windows.Results:Three novel genetic variants from TFR2 exon 4(position 603,605 and 606)were associated with anemia status.Moreover,the expression levels of interleukin 6,interleukin 4,transforming growth factorβand erythropoietin were higher in anemic pregnant women than those of nonanemic pregnant women but only erythropoietin level reached statistical significance.These results were followed by decreases of hepcidin and soluble transferrin receptor levels.Conclusions:Various factors contribute to anemia prevalence among pregnant women in Boyoali Regency,Central Java,Indonesia.Our novel findings showed that TFR2 exon 4 has 3 mutational sites in position 603,605 and 606.These novel genetic variants may provide a new insight into the role of TFR2 in anemia.
文摘Hypochromic microcytic anaemia includes iron deficiency, anaemia of chronic disorders, beta thalassemia trait and sideroblastic anaemia. To rule out the cause of hypochromic microcytic anaemia is a diagnostic difficulty. The conventional laboratory tests used for diagnosis have few disadvantages. Serum transferrin receptor (sTfR) is the most reliable method for assessment of body iron. Eighty four children were included in this study. They were further divided into four groups: iron deficiency anaemia (IDA), anaemia of chronic disorders (ACD), beta thalassemia trait (β TT) and controls. Children withIDAand ACD were diagnosed on the basis of history and serum iron profile. Subjects with β TT had HbA2 > 3.5%. sTfR were performed on all subjects. Level of sTfR in patients withIDAwas 5.79 μg/ml ± 1.3 μg/ml. In patients with anaemia of chronic disorders (ACD), β thalassemia trait and controls mean sTfR were 2.18 μg/ml ± 0.6 μg/ml, 2.1μg/ml ± 0.5 μg/ml and 2.0 μg/ml ± 0.5 μg/ml respectively. These results show level of sTfR was raised in IDA when compared with controls or ACD and β TT (p