Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three pediatric patients with refractory anemia with ringed sideroblasts (RARS) are presented. Bone marrow aspirates were examined using Romanowsky and Prussian blue iron stains in all three patients, and electron microscopic analysis was performed in one patient. All three patients had cytogenetic analysis of the bone marrow. Other studies included analysis of serum iron, total iron-binding capacity, ferritin, copper, vitamins B6 and B12, and folate levels. Antibody titers to Parvovirus, HIV, and other viruses were measured. The patients had contrasting clinical courses. Patients 1 and 2 had dysplastic hematopoietic features and cytogenetic findings (with either partial or one allele loss of chromosome 7), suggestive of myelodysplastic syndrome. Patient 1 experienced acute myeloid leukemia (AML) and had a good response to AML-directed therapy. Patient 2 had prolonged cytopenias and underwent bone marrow transplantation (BMT). Patient 3 had features suggestive of refractory anemia associated with mitochondrial cytopathy, including normal cytogenetics with pronounced vacuolization of marrow precursors. His anemia regressed spontaneously a few months after diagnosis. These patients represent two subgroups of pediatric RARS. Patients with the myelodysplastic syndrome (MDS) type may progress to cytopenias or leukemia and may require aggressive therapy; the type is characterized by clonal cytogenetic findings. The non-MDS type, which may relate to mitochondrial cytopathy, often shows spontaneous regression and requires only supportive treatment; it has normal cytogenetic findings.
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PMID:Refractory anemia with ringed sideroblasts in children: two diseases with a similar phenotype? 1052 57

The purpose of the study was to investigate the frequency of nutritional anemia among western venezuelan indians. Three hundred and ninety nine Yucpa indians from the communities of Aroy, Marewa and Peraya were studied. The concentrations of hemoglobin, serum iron, total iron binding capacity, serum ferritin, serum folate and serum vitamin B12 and the frequency of anemia and nutrient deficiency were determined. Anemia was found in 71.7% of people from Aroy, 52.25 from Marewa and in 74.4% from Peraya. No nutrient deficiencies were found in 48.1% of cases with anemia, while iron deficiency anemia was present in 39% of the population studied, and folate and or vitamin B12 deficiency were associated with anemia in only 12.9% of cases. The high frequency of anemia, unrelated to nutrient deficiency, among the Yucpa indians, is attributed to the prevalence of chronic infectious diseases such as hepatitis and parasitic infections, as well as skin and respiratory infectious processes.
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PMID:[Anemia in indigenous population of the West of Venezuela]. 1053 52

The prevalence of anaemia during pregnancy and post partum is according to the literature and many years clinical experience high. In the submitted work we investigated the incidence of sideropenic anaemia in women during the first three months after a spontaneous delivery, changes of clinical and laboratory indicators of anaemia during this period and the possible effect exerted by administration of iron and iron plus folic acid resp. Ninety pregnant women in the 35th to 39th week of pregnancy were at random divided into three equally sized groups and the following were assessed: haemogram, indicators of iron reserves, serum concentrations of folic acid, vitamin B12, erythropoetin and soluble transferrin receptor, liver tests, total protein + electrophoresis, acute stage proteins. In the first group (T) the women were given, starting on the 4th day after delivery 1 tablet of Tardyferon per day for two months. To the second group (F) for an equal period 1 tablet of Tardyferon Fol per day was administered. Women in the control group (K) had no medication. In the investigation women with medium and severe pregnancy anaemia were not included nor women taking during pregnancy or previously iron preparations or those treated in the past by blood transfusion. After spontaneous delivery (women who had Caesarean section or forceps delivery were eliminated from the study) the women were subjected to the same examinations as before delivery. These examinations were made on the fourth day after delivery and then after monthly intervals for a period of three months. At the same time the subjective condition of the mothers was evaluated after delivery, focused on the development of symptoms typical for anaemia and the possible effect of administered treatment. The investigation was completed by 60 women. During treatment no allergic or other serious side-reactions to the administered drugs calling for discontinuation of treatment were recorded. The results of the investigation proved that laboratory and clinical indicators of post-partum anaemia reached more quickly normal values in women treated with iron preparations. The authors did not detect a single and supreme marker of sideropenic anaemia in the early post-partum period. This is one of the reasons why the authors recommend iron administration to all women after spontaneous delivery. In the authors' opinion examination of the blood count on the fourth day and assessment of the serum ferritin concentration one month after a spontaneous delivery in selected mothers (e.g. after an above average peripartal blood loss) is desirable. Addition of folic acid to iron is of no special value during the post-partum period. Iron substitution in women after spontaneous delivery should be, with regard to the long persisting sideropenia, administered at least for three months. The dose of 80 mg elemental iron per day is sufficient for mild or medium post-partum anaemia. Addition of mucoprotease and ascorbic acid to iron preparations is useful because it increases the compliance of the patients and thus also its effectiveness. The preparation Tardyferon meets the above criteria and is therefore a good choice for the treatment of post-partum anaemia.
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PMID:[Anemia and its treatment with peroral anti-anemia agents in women during the postpartum period]. 1056 44

Several factors influence the efficacy of the action of human recombinant erythropoietin during treatment of anaemia in haemodialysis patients. We carried out a six-month prospective study of 23 stable patients who had been on haemodialysis for at least one year to attempt to evaluate those factors modifying the dose of the hormone to attain a similar haematocrit, such as use or not of angiotensin converting enzyme inhibitors, hepatitis C virus positive or negative, age older or younger than 60 years, acquired cystic kidney disease or not, and sex. The patients were treated with subcutaneaous erythropoietin for over a year to attain a haematocrit of 35%, intravenous iron to reach plasma ferritin levels > 250 ng/ml and a transferrin saturation index > 20%, folic acid and group B vitamins. Parameters studied included age, time and duration of haemodialysis, Kt/V, albumin, haematocrit, erythropoietin in U/kg/week, intact PTH, hepatitis C virus, PCR of the hepatitis C virus, transaminases, ferritin, transferrin saturation index, folic acid, vitamin B12, and aluminium. No statistically significant differences were seen between the patients with and without hepatitis or in age or acquired cystic kidney disease and sex in the hormone dose given to achieve similar levels of haematocrit. Higher doses of erythropoietin were necessary in those patients treated with antihypertensive agents (71 +/- 25 vs 44 +/- 25 U/kg/week; p < 0.05). There were no differences between groups in factors known to cause resistance to the action of the hormone. The most important conclusions from this study concern the cost-benefit relation of treating hypertensive patients on haemodialysis with angiotensin converting enzyme inhibitors and erythropoietin.
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PMID:[Study of various factors that could have an impact on the treatment with erythropoietin of hemodialysis anemia]. 1085 98

Effective management of early anaemia in the course of chronic renal insufficiency requires the following: (i) implementing an efficient diagnostic strategy to exclude common contributing factors; (ii) initiating epoetin therapy for the majority of patients; for and (iii) ensuring adequate iron supply erythropoiesis. Diagnostic inquiry is warranted whenever the haemoglobin concentration is below the normal range adjusted for age and gender. The most efficient diagnostic approach is to assume erythropoietin deficiency, exclude iron deficiency, and pursue further diagnostic tests only when red-cell indices are abnormal or when leukopenia or thrombocytopenia are also present. Macrocytosis should prompt an inquiry into alcoholism, B12 deficiency, or folate deficiency. Microcytosis suggests iron deficiency or thalassaemia. Associated cytopenias raise the possibility of alcohol toxicity, pernicious anaemia, malignancy, or myelodysplastic syndrome. Epoetin therapy is warranted whenever the haemoglobin concentration has fallen below 10.0 g/dl. To initiate therapy prior to dialysis, epoetin should be administered at an average dose of 100 IU/kg/week (80-120 IU/kg/week, 50-150 IU/kg/ week) by subcutaneous injection. Haemoglobin concentration should be monitored every 2 weeks and the epoetin dose adjusted by increments or decrements of 25% to maintain a rate of rise of haemoglobin concentration of 0.2-0.6 g/dl (0.3 0.6 g/dl/week, 0.2-0.5 g/dl/week). When the target range is achieved, the dose of epoetin should be continually adjusted to maintain a stable haemoglobin concentration. Transferrin saturation and ferritin concentration should be monitored monthly, and sufficient iron provided to maintain transferrin saturation above 20%. The lower the haemoglobin concentration, the greater the likelihood that future intravenous iron will be required. Oral iron supplements should be avoided, since they are costly, ineffective, and troublesome to patients. Finally, a blunted therapeutic response to epoetin therapy provides important diagnostic information and gnostic inquiry.
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PMID:Management of early renal anaemia: diagnostic work-up, iron therapy, epoetin therapy. 1103 56

Anemia should not be accepted as an inevitable consequence of aging. A cause is found in approximately 80 percent of elderly patients. The most common causes of anemia in the elderly are chronic disease and iron deficiency. Vitamin B12 deficiency, folate deficiency, gastrointestinal bleeding and myelodysplastic syndrome are among other causes of anemia in the elderly. Serum ferritin is the most useful test to differentiate iron deficiency anemia from anemia of chronic disease. Not all cases of vitamin B12 deficiency can be identified by low serum levels. The serum methylmalonic acid level may be useful for diagnosis of vitamin B12 deficiency. Vitamin B12 deficiency is effectively treated with oral vitamin B12 supplementation. Folate deficiency is treated with 1 mg of folic acid daily.
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PMID:Anemia in the elderly. 1103 74

Recombinant human erythropoietin (rEpo) is being used with increasing frequency by endurance athletes to improve aerobic potential. Although rEpo administration has been banned by the International Olympic Committee, no methods are available to unequivocally detect its abuse in sports. Prompted by these considerations, we evaluated the main hematological and biochemical modifications measured in the blood of 18 volunteers upon rEpo administration. Different rEpo regimens, iron, folic acid, and vitamin B12 administration did not significantly modify the percentage increase in hematocrit. However, a significant decrease in circulating ferritin (fr) and an increase in the soluble transferrin receptor (sTfr) were not found in athletes receiving low (30 IU/kg) doses of rEpo. Thus, an increase in the sTfr/fr ratio cannot be used as an indicator of rEpo abuse, at least when the hormone is administered at low concentrations. In contrast, the amounts of beta-globin mRNA detected by quantitative competitive (RT)-PCR in whole blood samples significantly increased above the threshold levels in all of the treatments investigated. Taken together, these data suggest that hematocrit value, reticulocyte count, soluble transferrin receptor content, and concentration of beta-globin mRNA, when included in a new multiparametric formula, can detect rEpo abuse in 57.5% of the samples examined with a confidence interval of 99.99%. Thus, the method reported in this paper could significantly improve the tests currently available, which in similar experiments allowed the detection of rEpo abuse in only 7.6% of the samples examined.
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PMID:Identification of blood erythroid markers useful in revealing erythropoietin abuse in athletes. 1135 95

Celiac disease (CD) is frequently associated with other autoimmune diseases such as Type 1 diabetes mellitus, autoimmune thyroiditis (AT), and Addison's disease. The frequency of these associations varies with the populations studied. We conducted this study to ascertain the prevalence of CD in patients with AT from Sardinia, an area with a very high prevalence of CD. To this aim, 297 consecutive patients with AT (as defined by elevated antithyroid antibody levels and a positive ultrasound scan) were studied. Immunoglobulin A and G-class antigliadin antibodies were assayed in serum; if either or both were positive, antiendomysium antibodies were determined. If two markers were positive, serum ferritin, folate, and vitamin B12 levels were measured and jejunal biopsy was suggested. Thirteen out of the 14 patients who showed at least two positive markers consented to jejunal biopsy and all of them showed histological features of CD. The prevalence of CD in AT patients was 4-fold greater than that observed in the general population (4.37 vs 1.06%, p<0.0001). Ferritin was low in 6 and vitamin B12 in 2 out of 13 patients; serum folates were normal in all patients. Molecular typing of HLA class II alleles showed an increased frequency of the extended haplotype DRB1*0301/DQA1*0501/DQB1*0201. None of our patients had a history of gastrointestinal symptoms. We confirm the increased prevalence of silent CD in patients with AT. Patients with AT ought to be regarded as a high-risk group for CD and should be screened routinely for it; if negative, screening tests should be repeated at regular intervals.
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PMID:Prevalence of silent celiac disease in patients with autoimmune thyroiditis from Northern Sardinia. 1140 47

The invention of recombinant human erythropoietin (rHuEpo) for the treatment of renal anaemia was a hallmark in the care of patients with renal insufficiency. Recently published guidelines (European Best Practice Guidelines, NKF-DOQI) have set the target haemoglobin to be reached by treatment with rHuEpo to >11 g/dl. Normalizing haemoglobin levels may reduce morbidity and mortality and improve quality of life in haemodialysis patients. During long-term treatment, most patients will not respond adequately to therapy with rHuEpo alone. The most important confounding factor, limiting the effectiveness of rHuEpo, is absolute or functional iron deficiency, which is now recognized and treated in many dialysis units. However, there are several other adjuvant treatment options which may help to optimize the response to treatment with rHuEpo. A weekly dose of 2-3 mg of folic acid and 100-150 mg of vitamin B6 is recommended for haemodialysis patients on rHuEpo therapy. The addition of 0.25 mg/month of vitamin B12 may be necessary in selected patients. Vitamin C (1-1.5 g/week) was shown to overcome functional iron deficiency in patients with high ferritin levels. The potential increase of oxidative stress induced by intravenous iron therapy may be blunted by concomitant administration of vitamin E (1200 IU). There is clear evidence from the literature that treatment of secondary hyperparathyroidism by vitamin D improves erythropoiesis. The most recently discovered biological effects of rHuEpo include the induction of several genes in endothelial cells as well as a role for erythropoietin in the outcome of plasmodium infection. A new erythropoietin-like molecule is novel erythropoiesis stimulating protein (NESP), which is as effective and safe as rHuEpo, with the potential advantage of less frequent dosing.
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PMID:Novel aspects of erythropoietin response in renal failure patients. 1150 83

The objective of this study was to determine the nutritional status regarding vitamin A, iron and anthropometric indices and dietary intakes of children aged 2-5 years and their caregivers in a rural South African community. Micronutrient, haematological, anthropometric and dietary indicators were used to assess nutritional status during a cross-sectional survey. The setting was a low socioeconomic rural African community (Ndunakazi), approximately 60 km northwest of the coastal city of Durban in KwaZulu-Natal, South Africa. The subjects were children aged 2-5 years (n = 164), and their caregivers (n = 137). Of the preschool children, 50% had a low vitamin A status (serum retinol < 20 micrograms/dL), 54% were anaemic (Hb < 11 micrograms/dL), 33% had depleted iron stores (serum ferritin levels < 10 micrograms/L), and 21% were stunted (Z-score for height-for-age < -2SD). Of the caregivers, 30% had a low vitamin A status (serum retinol < 30 micrograms/dL), 44% were anaemic (Hb < 11 micrograms/dL), 19% had depleted iron stores (serum ferritin levels < 12 micrograms/L), and 40% and 26% were overweight (BMI > or = 24 and < 30) and obese (BMI > or = 30), respectively. The children and caregivers consumed a cereal-based diet, with phutu (a stiff porridge made with maize meal), rice and bread as staple foods. Quantitative dietary analysis showed that the dietary intakes were high in carbohydrates (approximately 70% of total energy), while fat intake was within the prudent dietary guideline of 30% of total energy intake. Median dietary intakes were below 50% of the RDA for calcium, zinc (children only), vitamin A, riboflavin, niacin (children only) and vitamin B12. These preschool children and their caregivers consumed a high carbohydrate diet deficient in most of the essential micronutrients. The poor quality of the diet was reflected in a poor vitamin A and iron status, and one-fifth of the children showed linear growth retardation. Nutrition education and intervention programmes should address micronutrient deficiencies, with the focus not only on quantity, but also quality of the diet.
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PMID:Nutritional status and dietary intakes of children aged 2-5 years and their caregivers in a rural South African community. 1151 32


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