scholarly journals DETECTION OF TRANSFERRIN RECEPTOR 1 SINGLE NUCLEOTIDE VARIANT RS- 3817672 IN PEDIATRIC IRON DEFICIENCY ANAEMIA

2021 ◽  
Vol 3 (4) ◽  
pp. 86-87
Author(s):  
Hamis Ismail ◽  
Wessam EL Gendy ◽  
Hoda Hassab ◽  
Mona Tahoun
2019 ◽  
Vol 13 (10) ◽  
pp. 933-938
Author(s):  
Md. Shabab Hossain ◽  
Subhasish Das ◽  
Md. Amran Gazi ◽  
Mustafa Mahfuz ◽  
Tahmeed Ahmed

Introduction: Although parasitic infections lead to extracorporeal iron loss resulting in iron deficiency anaemia (IDA), data associating IDA with parasitic infections in the first two years of life are limited. We sought to evaluate the prevalence and severity of anaemia and IDA during this period and to investigate the association between intestinal parasitic infections and IDA. Methodology: Data was collected under MAL-ED study protocol in Bauniabadh slum of Dhaka, Bangladesh. The presence of parasites in stool was detected using wet preparation microscopy at 7, 15, and 24 months. Anaemia was defined as serum haemoglobin < 11 g/dL and IDA was defined by serum haemoglobin < 11 g/dL, serum ferritin < 12 g/L and soluble transferrin receptor > 8.3 mg/L. Logistic regression was done to quantify the relation between stool parasite and IDA separately on samples collected at 7, 15 and 24 months. Results: 265 children were enrolled after birth and samples were collected at 7, 15 and 24 months. Anaemia was detected at 7, 15 and 24 months in 117 (48.8%), 106 (44.2%) and 67 (27.9%) cases whereas IDA was found in 15 (6.3%), 47 (19.6%) and 39 (16.3%) cases, respectively. Iron deficiency anaemia at 24 months was significantly associated with Ascaris lumbricoides infection (OR 3.76; 95 % CI, 1.08-13.11). Conclusions: The prevalence of anaemia and IDA in slum dwelling children of Dhaka is high and Ascaris lumbricoides infection was found to have a strong association with IDA at 24 months of age.


2020 ◽  
Vol 5 ◽  
pp. 40
Author(s):  
Kelvin M. Abuga ◽  
Kirk A. Rockett ◽  
John Muthii Muriuki ◽  
Oliver Koch ◽  
Manfred Nairz ◽  
...  

Background: Anaemia is a major public health concern especially in African children living in malaria-endemic regions. Interferon-gamma (IFN-γ) is elevated during malaria infection and is thought to influence erythropoiesis and iron status. Genetic variants in the IFN-γ gene (IFNG) are associated with increased IFN-γ production. We investigated putative functional single nucleotide polymorphisms (SNPs) and haplotypes of IFNG in relation to nutritional iron status and anaemia in Gambian children over a malaria season. Methods: We used previously available data from Gambian family trios to determine informative SNPs and then used the Agena Bioscience MassArray platform to type five SNPs from the IFNG gene in a cohort of 780 Gambian children aged 2-6 years. We also measured haemoglobin and biomarkers of iron status and inflammation at the start and end of a malaria season. Results: We identified five IFNG haplotype-tagging SNPs ( IFNG-1616 [rs2069705], IFNG+874 [rs2430561], IFNG+2200 [rs1861493], IFNG+3234 [rs2069718] and IFNG+5612 [rs2069728]). The IFNG+2200C [rs1861493] allele was associated with reduced haemoglobin concentrations (adjusted β -0.44 [95% CI -0.75, -0.12]; Bonferroni adjusted P = 0.03) and a trend towards iron deficiency compared to wild-type at the end of the malaria season in multivariable models adjusted for potential confounders. A haplotype uniquely identified by IFNG+2200C was similarly associated with reduced haemoglobin levels and trends towards iron deficiency, anaemia and iron deficiency anaemia at the end of the malaria season in models adjusted for age, sex, village, inflammation and malaria parasitaemia. Conclusion: We found limited statistical evidence linking IFNG polymorphisms with a risk of developing iron deficiency and anaemia in Gambian children. More definitive studies are needed to investigate the effects of genetically influenced IFN-γ levels on the risk of iron deficiency and anaemia in children living in malaria-endemic areas.


2020 ◽  
Vol 5 ◽  
pp. 40
Author(s):  
Kelvin M. Abuga ◽  
Kirk A. Rockett ◽  
John Muthii Muriuki ◽  
Oliver Koch ◽  
Manfred Nairz ◽  
...  

Background: Anaemia is a major public health concern especially in African children living in malaria-endemic regions. Interferon-gamma (IFN-γ) is elevated during malaria infection and is thought to influence erythropoiesis and iron status. Genetic variants in the IFN-γ gene (IFNG) are associated with increased IFN-γ production. We investigated putative functional single nucleotide polymorphisms (SNPs) and haplotypes of IFNG in relation to nutritional iron status and anaemia in Gambian children over a malaria season. Methods: We used previously available data from Gambian family trios to determine informative SNPs and then used the Agena Bioscience MassArray platform to type five SNPs from the IFNG gene in a cohort of 780 Gambian children. We also measured haemoglobin and biomarkers of iron status and inflammation at the start and end of a malaria season. Results: We identified five IFNG haplotype-tagging SNPs (IFNG-1616 [rs2069705], IFNG+874 [rs2430561], IFNG+2200 [rs1861493], IFNG+3234 [rs2069718] and IFNG+5612 [rs2069728]). The IFNG+2200C [rs1861493] allele was associated with reduced haemoglobin concentrations (adjusted β -0.44 [95% CI -0.75, -0.12]; Bonferroni adjusted P = 0.03) and a trend towards iron deficiency compared to wild-type at the end of the malaria season in multivariable models adjusted for potential confounders. A haplotype uniquely identified by IFNG+2200C was similarly associated with reduced haemoglobin levels and trends towards iron deficiency, anaemia and iron deficiency anaemia at the end of the malaria season in models adjusted for age, sex, village, inflammation and malaria parasitaemia. Conclusion: We found limited statistical evidence linking IFNG polymorphisms with a risk of developing iron deficiency and anaemia in Gambian children. More definitive studies are needed to investigate the effects of genetically influenced IFN-γ levels on the risk of iron deficiency and anaemia in children living in malaria-endemic areas.


Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 3746-3746
Author(s):  
EunSil Park ◽  
In-Suk Kim ◽  
JiHyun Seo ◽  
JaeYoung Lim ◽  
ChanHoo Park ◽  
...  

Abstract The incidence of iron deficiency anaemia in 6∼24 month old infants due to increase in iron demand for growth spurt is reported ranged 10 to 40%. However this age group has a common acute illness such as urinary tract infection, pneumonia, and other viral infections. The aim of this study is to evaluate that iron parameter and acute phase reactant are useful parameters in differentiating anaemia by infection from anemia by iron deficiency and the mixed anaemia of these. Among 6–24 months of the infants who visited Gyeongsang Univeristy Hospital for 7 years from 2000 to 2006, 131 infants were enrolled. Hemoglobin(Hb), serum ferritin(SF), serum transferrin receptor(STfR), C reactive protein(CRP), interleukin-6(IL-6), prohepcidine were checked. The subgroup of anaemia of inflammation(AI) was defined as Hb &lt;11 g/dL and SF &gt;50 μg/L, the subgroup of iron deficiency anaemia(IDA) as Hb &lt;11 g/dL and SF &lt;12 μg/L and the normal group as Hb ≥11 and SF ≥12 μg/L. The mean STfR in the subgroup of AI, IDA and normal was 3.89(±2.64), 10.6(±4.95) and 3.96(±1.24), respectively. The mean STfR/Log SF of subgroup was 1.87(±1.55), 36.11(±71.5), 2.31(±0.97), respectively. The mean Log(STfR/SF) was statistically significant between 3 subgroup. All IDA group had Log(STfR/SF) &gt;2.55 whereas in all subjects classified as AI it was &lt;2.55, thus clearly separating two. The mean IL-6 of AI was significantly higher than IDA subgroup and the mean prohepcidine of AI was significantly lower than the normal group. Calculating Log(STfR/SF) is a useful criteria in classification of the iron status. Prohepcine has nothing to do with AI. Iron signal predominant over inflammatory signal in AI. The Mean(±SD) of STfR, STfR/LogSF, Log (TfR/SF), CRP, IL-6 and Prohepcidine in Subgroups. AI IDA Normal Same letters mean that are not significantly different (P &lt;0.05) AI, anaemia of inflammation; IDA, iron deficiency anaemia Subgroup(%) 33(25) 29(22) 69(53) Hg(g/dL) &lt;11 &lt;11 ≥11 SF(μg/L) &gt;50 &lt;12 ≥12 STfR mean(±SD) 3.89(2.64)a 10.6(4.95) b 3.96(1.24) a STfR/LogSF mean (±SD) 1.87(1.55) a 36.11(71.5) b 2.31(0.97) a Log (TfR/SF) mean(±SD) 1.30(0.56) a 3.29(0.43) b 1.76(0.43) c CRP mean(±SD) 28(39.2) a 7.6(9.6) b 17(28.0) a IL-6 mean(±SD) 6.1(10.5) a 2.0(6.3) b 4.78(11.3) c Prohepcidine mean(±SD) 204(70.5) a 234(144) a 301(120.6) b Fig.1. Log(TfR/SF) in the subgroup. AI, anaemia of inflammation; IDA, Iron deficiency anaemia. Dotted lines indicate the cut-off value at Log(TfR/SF)=2.55 Fig.1. Log(TfR/SF) in the subgroup. AI, anaemia of inflammation; IDA, Iron deficiency anaemia. Dotted lines indicate the cut-off value at Log(TfR/SF)=2.55


2019 ◽  
Vol 13 (1) ◽  
pp. 9-14
Author(s):  
Haithem A. Al-Rubaie ◽  
Israa M. Al-Bayaa ◽  
Yassmin A. Al-Amiri

Background:Anaemia is a common extra-articular manifestation of rheumatoid arthritis (RA) where anaemia of chronic disease (ACD) and iron deficiency anaemia (IDA) are the two most frequent types. The distinction between these two types of anaemia has always been challenging requiring sophisticated techniques. Serum transferrin receptor (sTfR) a truncated soluble form of the transferrin receptor is one of the parameters that is influenced by the Iron content and supply to the erythrons and is not affected by inflammatory status and therefore the use of the sTfR/log ferritin (sTfR-F) index can be a reliable indicator of functional iron deficiency.Aim of the study:This study aims to evaluate the usefulness of sTfR and sTfR-F index in discriminating the most common types of anaemia in patients with RA.Patients and methods:The study included 50 patients with RA and 30 healthy subjects as a control group. Complete blood picture, C-reactive protein, serum Iron, unsaturated iron binding capacity, sTfR and serum ferritin were tested.Results and Conclusion:anaemia was present in 34/50 patients; 19 patients had ACD, 9 had ACD/IDA and only 6 patients had IDA. Both the sTfR and the sTfR-F index showed a significant difference between anaemia groups (P values = 0.037 and 0.001, respectively). sTfR-F index has shown to be a very useful parameter that can discriminate efficiently between IDA and ACD and between ACD and ACD/IDA in patients with RA.


2002 ◽  
Vol 8 (2-3) ◽  
pp. 298-307
Author(s):  
L. Ragab ◽  
H. A. Ibrahim ◽  
A. S. Eid ◽  
T. Kotb ◽  
M. F. Konsowa

We evaluated the ability of serum transferrin receptor [sTFR] to identify different types of anaemia in children. Thus 150 Egyptian children suffering from anaemia [iron deficiency anaemia, anaemia of chronic disease and beta-thalassaemia] were enrolled, together with 50 controls. There was a significant increase in the mean levels of sTFR in the groups with iron deficiency anaemia and thalassaemia, and a significant decrease in mean sTFR levels in the group with anaemia of chronic disease. Serum ferritin levels were significantly higher in all patient groups except the group with iron deficiency anaemia. There were also significant correlations between the sTFR and sTFR/log ferritin ratio [sTFR-F index] and different indices of iron status and of erythropoiesis. The sTFR-F index could be used as a diagnostic or screening tool for iron deficiency anaemia, anaemia of chronic disease and thalassaemia.


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