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

The purpose of this review is to examine current research on the iron status of the elderly and factors that influence the body burden of iron. Studies of noninstitutionalized elderly individuals report mean iron intakes that meet current Recommended Dietary Allowances for iron. Dietary practices that may decrease iron bioavailability, and hence iron stores in the body, include low intakes of ascorbic acid or high intakes of calcium, and decreased consumption of highly available iron from meat, fish, and poultry. Although not well documented, the effect of age on iron absorption and iron excretion appears to be small, and body stores of iron increase with age. It is difficult to estimate the prevalence of iron deficiency in elderly persons, because impaired iron status can be the result of iron deficiency or chronic disease. Further study is necessary to determine whether red blood cell ferritin and serum transferrin receptors may be useful biochemical markers to differentiate the anemia of chronic disease from iron deficiency anemia. Hereditary hemochromatosis is a genetic disease that greatly increases the body burden of iron and the risk of hepatic disease among homozygotes. Because iron deficiency or iron excess may impair health, the role of iron in diseases associated with aging such as depressed immune response, neurological dysfunction, cancer, and heart disease is discussed.
 ...
PMID:Iron nutriture in elderly individuals. 800 89

A significant body of research over the last 10-20 years supports the hypothesis that screening for hereditary hemochromatosis (HH) may be cost-effective, given the low-cost, low-risk therapeutic options available for most homozygous individuals. The factors that confound a straightforward test of this hypothesis include the fact that the disease is not fully penetrant and that, to achieve the anticipated life-year gains, therapy must be instituted before disease complications become irreversible. Recent articles and editorials, as well as practice guidelines prepared by the College of American Pathologists, recommend screening for HH with transferrin saturation and ferritin testing, and with percutaneous liver biopsy for those with positive laboratory test results. Patients at risk would be treated with phlebotomy for life and monitored with ferritin testing. We present a cost-effectiveness analysis that evaluates the efficacy of using a screening strategy to accomplish the desired healthcare goals.
 ...
PMID:Cost-effectiveness analysis for evaluation of screening programs: hereditary hemochromatosis. 804 21

We postulated that patients with hereditary hemochromatosis (HH) absorb increased quantities of lead, as do iron-deficient subjects. To test this hypothesis, whole blood lead concentration ([blood Pb]) was quantified by atomic absorption spectrometry in HH homozygotes (n = 44), obligate heterozygotes (n = 19), normal control subjects (n = 33), and abnormal controls, with transfusion-induced iron overload (n = 8). HH homozygotes had higher [blood Pb] than did normal control subjects (5.6 +/- 0.6 microgram/dl vs 3.6 +/- 0.5 microgram/dl; p < 0.005); significantly increased mean [blood Pb] was observed in both male and female homozygotes. In heterozygotes, the mean [blood Pb] 4.1 +/- 0.5 microgram/dl) was intermediate between that of homozygotes and normal control subjects. The mean [blood Pb] of subjects with transfusion-induced iron overload (22 +/- 0.6 microgram/dl) did not differ significantly from that of normal controls. The findings in homozygotes could to be related to age, serum ferritin concentration, presence or absence of iron loading, or the extent of therapeutic phlebotomy. Lead exposure in all of our subjects was due primarily to ambient sources. Analysis of our data, when using a mathematical biokinetic model of human lead metabolism, suggests that the most likely explanation for our findings is that homozygotes (and, to a lesser extent, heterozygotes) absorb increased quantities of lead, a conclusion that corresponds to the increased absorption of iron and cobalt previously documented in homozygotes.
 ...
PMID:Blood lead concentrations in hereditary hemochromatosis. 805 76

The present investigation evaluated the serum transferrin receptor concentration in subjects with nontransfusional iron overload who were identified in two separate studies on the basis of a serum ferritin level above 400 micrograms/L. Subjects with preclinical hereditary hemochromatosis were evaluated in the first study and those with the African form of iron overload in the second. In the first study, hereditary hemochromatosis was identified in 14 white men on the basis of a persistent elevation in transferrin saturation above 55%. The serum receptor concentration was elevated above the upper cut-off of 8.5 mg/L in two of the subjects, but the mean receptor of 6.1 +/- 1.4 mg/L (mean +/- 2 SE) did not differ significantly from the normal mean for this assay of 5.6 +/- 0.3 mg/L. In the same study, 60 control subjects with secondary iron overload were identified on the basis of a serum ferritin persistently above 400 micrograms/L, with a normal serum C-reactive protein concentration but with a transferrin saturation < 55%. Three of these subjects had an elevated serum receptor concentration but the mean value of 5.5 +/- 0.4 mg/L did not differ from normals nor from subjects with hemochromatosis. In the second study, 49 black Africans with iron overload were divided into those with or without an elevated transferrin saturation. The mean serum receptor concentration of 5.0 +/- 0.8 mg/L and 4.5 +/- 0.4 mg/L, respectively, did not differ statistically. It was concluded that there is no evidence of generalized dysregulation of the transferrin receptor in hemochromatosis or African siderosis.
 ...
PMID:Serum transferrin receptor in hereditary hemochromatosis and African siderosis. 817 99

Although venesection therapy is well established for the initial depletion of iron stores in hereditary hemochromatosis, the frequency of subsequent therapy has not been clearly defined. In this study, 21 homozygotes (16 male, five female; mean age of 58, with a range of 26 to 77 years) who had completed initial venesection therapy were followed without further venesections for a mean of 4.0 years (range of 1 to 10.4 years) with iron reaccumulation assessed by annual serum ferritin concentration. Over the follow-up period, the mean rise in serum ferritin was 99 (micrograms/l)/year (range of 1.2 to 241 micrograms/l). The mean interval for the ferritin to become elevated above the normal range in 10 patients was 3.8 years. Eleven of 21 patients required no further venesection therapy over the follow-up interval. There was no significant correlation between the annual rate of ferritin increase and the age or amount of iron removed by prior venesections. These data demonstrate that monitoring body iron stores annually and the selective use of venesections if iron stores reaccumulate is a safe alternative to lifelong venesections every 2-4 months. Many homozygotes will not require reinitiation of venesection therapy for > 4 years. Annual monitoring of body iron stores with reinstitution of weekly venesection when the serum ferritin exceeds the upper limit of normal was a safe alternative to long-term maintenance venesection.
 ...
PMID:Rate of iron reaccumulation following iron depletion in hereditary hemochromatosis. Implications for venesection therapy. 850 91

Idiopathic haemochromatosis and thalassemia are the most frequent genetic disorders associated to iron overload. In major and intermedia thalassemia patients, the iron overload is a well defined situation; however in minor thalassemia, frequently an asymptomatic disease, there is no agreement about the situation of iron storage. The best index for evaluation of the iron state is serum ferritin, because there is a correlation between its value and iron hepatic concentration. PURPOSE--Iron state was studied in a homogenous group of Brazilians with beta-thalassemia trait and the correlation between iron state and anemia severity was verified. METHODS--35 adult subjects with beta-thalassemia trait and 35 normal subjects (20 women and 15 men, aged between 20 to 54 years/group) were studied for serum iron, TIBC, serum ferritin and hemoglobin. RESULTS--The results demonstrated that in the male group of beta-thalassemia trait subjects the mean value of serum ferritin was 253.69ng/mL and in the male control group it was 107.79ng/mL (U calc < U crit). There was no statistic difference between any studied variable in female groups. There was no correlation between the iron state and the hemoglobin levels in beta-thalassemia trait subjects. CONCLUSION--The possibility of iron overload in males with beta-thalassemia trait and the necessity to follow-up those subjects with high levels of serum ferritin is suggested.
 ...
PMID:[Assessment of iron status in individuals with heterozygotic beta-thalassemia]. 857 30

Iron deficiency severe enough to cause anemia is associated with significant morbidity while uncontrolled iron absorption which occurs in disorders such as hereditary hemochromatosis causes multiorgan failure and early death. Preliminary data from the Third National Health and Nutrition Examination Survey demonstrate that the prevalence of iron deficiency anemia in the United States is now very low. This implies that the current iron consumption is adequate for most individuals. An important unresolved question relates to the necessity for further reducing the prevalence of iron deficiency without anemia. More information is required to determine whether this lesser degree of iron deficiency is harmful. Recent survey data indicate that concomitantly with the reduced prevalence of iron deficiency there has been a rise in serum ferritin concentrations in American men and postmenopausal women. These findings have led to concern about the effectiveness of the physiological mechanisms for limiting storage accumulation in normal individuals and carriers of the hemochromatosis gene when dietary iron content is high. Furthermore, recent epidemiological observations suggest that a modest increase in iron stores (in a range previously considered safe) is a possible risk factor for ischemic heart disease and cancer; however, a causal relationship remains to be proven. Nonetheless, because there is no known benefit of high iron storage status, it seems prudent to avoid further increases in and possibly to reduce the dietary iron intake of men and postmenopausal women. Mean intake in these groups exceeds the current RDA by a significant margin. Therefore, the sources of dietary iron as well as other factors contributing to high serum ferritin values have to be defined. Also, efforts should be made to increase the awareness of professionals and the public about the possible risks of excessive dietary iron. The complexity of the Western diet and an incomplete understanding of all of the factors affecting serum ferritin concentrations make it very difficult to specify a safe upper range for daily iron intake at the present time.
 ...
PMID:Deliberations and evaluations of the approaches, endpoints and paradigms for iron dietary recommendations. 881 5

Hereditary hemochromatosis is an autosomal recessive disorder, the gene for which occurs in approximately 10% of Americans, most of whom are unaffected heterozygotes. Approximately 5/1000 white Americans are homozygous and at risk of developing severe and potentially lethal hemochromatosis. The disorder affects numerous organ systems, but the most common symptoms are fatigue, palpitations, joint pains, and impotence; the most common signs are those that relate to hypothalamic, cardiac, hepatic or pancreatic dysfunction, including poor cold tolerance, impotence in males, amenorrhea in females, cardiac arrhythmias, dyspnea, edema, hepatosplenomegaly, spider telangiectases, ascites, deformity, swelling or limitation of motion of joints, weight loss, hyperpigmentation. Characteristic abnormalities of laboratory tests include elevated serum iron concentration, high transferrin saturation, elevated serum ferritin concentration, elevated serum transaminases, hyperglycemia and low values for thyroid-stimulating hormone (TSH) and gonadotropins. Death may be the result of cardiac arrhythmia, congestive heart failure, liver failure or liver cancer. Since many of these complications cannot be reversed once they have developed, early diagnosis and treatment are essential. In view of the high prevalence in the American population (prevalence varies with ethnic background), the low cost of diagnosis and treatment, the efficacy of treatment if begun early, and, on the other hand, high costs and low success rate of late diagnosis and treatment, systematic screening for hemochromatosis is warranted for all persons over the age of 20 years. The initial screening should be by measurement of serum iron concentration and transferrin saturation. The practice guideline provides a diagnostic algorithm for cases in which the serum transferrin saturation is 60% or greater. It also provides guidelines for clinical management.
 ...
PMID:Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis. 886 84

Primary hemochromatosis is characterized by a specific pattern of clinical manifestations. It includes liver disease with hepatomegaly, glucose intolerance, e.g. diabetes, hyperpigmentation oft the skin, impotence/ amenorrhea, arthropathy, cardiomyopathy and fatigue. Laboratory investigation reveals significantly elevated serum ferritin and transferrin saturation with iron. The diagnosis is confirmed by liver biopsy and quantitative determination of elevated liver iron content. Wilson's disease represents a copper storage disease. Prominent clinical features are hepatomegaly and splenomegaly. Neurological alterations and detection of Kayser-Fleischer corneal rings are typical. In the acute initial phase the often young patients present with Coombs-negative hemolysis. Psychiatric alterations, cardiomyopathy, arthropathy, nephropathy, as well as thrombocytopenia and leucopenia are other clinical features. Laboratory parameters of Wilson's disease include low serum ceruloplasmin and serum copper. There is an elevated urinary copper excretion and elevated serum free copper concentration. The diagnosis is confirmed by liver biopsy with quantitative determination of an elevated liver copper content.
 ...
PMID:[Current diagnosis: hereditary metabolic diseases of the liver (primary hemochromatosis, Wilson disease)]. 898 78

Hereditary hemochromatosis (HHC) is an inherited disease transmitted in an autosomal recessive pattern. With homozygosity occurring in up to 0.5% of the population, HHC is the most prevalent genetic disease among the white population worldwide and has the same prevalence as the sickle cell trait in the African-American population. An asymptomatic 50-year-old white man presented at the family practice clinic and stated that HHC had been diagnosed in his mother. Laboratory findings showed markedly elevated transferrin saturation and ferritin levels. The diagnosis of HHC was made on the basis of the laboratory results and family history, and therapy was begun. Clinical manifestations of HHC occur late and include diabetes mellitus, cirrhosis, and cardiomyopathy. As end-organ damage is preventable, optimal management involves early diagnosis and lifelong phlebotomy. Diagnosis is made by an elevated transferrin saturation level and an increased serum ferritin value. Hereditary hemochromatosis is a genetic disorder of iron metabolism that has an excellent prognosis if diagnosed early.
 ...
PMID:Hereditary hemochromatosis. 907 Dec 52


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>