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)

Over the last few years the study of idiopathic haemochromatosis has not brought to light any basic change in the overall pattern of organic and metabolic damage produced by the disease and comprising altered skin pigmentation, liver disease, diabete mellitus, heart disease, endocrine dysfunction, bone and joint disease. Nevertheless, certain facets of the clinical picture have been described and progress has been made in understanding the signs of the disease. Although the desferrioxamine test is no without merit, especially if performed after vitamin C administration, for measuring the extent of iron overload, two methods seem better equipped: serum ferritin radioimmunoassay and measurement of iron concentration in a liver biopsy specimen. The HLA antigen A3 and, more especially, haplotype A3, B14, are markers for the genetic basis of the disease. Repeated phlebotomy therapy generally brings about symptomatic improvement and a significant increase in survival.
 ...
PMID:[Idiopathic haemochromatosis. I. Clinical, biological and therapeutic aspects (author's transl)]. 37 16

Twelve patients (5 women and 7 men, aged from 19 to 54 years) presenting with congenital, non-spherocytic haemolytic anaemia due to erythrocyte pyruvate kinase (PK) deficiency were investigated for systemic iron overload 18 to 27 years after the diagnosis was made. One patient had, beside PK deficiency, idiopathic haemochromatosis demonstrated by the HLA A3 and B14 markers. Another, 21-year old male patient had received more than 100 blood transfusions. In both patients, blood ferritin levels were as high as 5,584 and 9,665 g/litre respectively. Among the remaining 10 patients, 9 had biochemical signs of iron overload, such as high serum iron levels, reduced total siderophilin saturation capacity and blood ferritin levels of about 1,500 g/litre. Hepatic histology could be obtained from 5 patients and showed significant iron overload with cirrhosis in one case and clear-cut portal fibrosis in 3 cases. In all but the patient with multiple transfusions the iron overload was unrelated to transfusions, being present in their absence, usually during the 3rd and 4th decades of their life. The finding of iron overload requires preventive measures such as limitation of transfusions and elimination of iron by deferoxamine therapy.
 ...
PMID:[Iron overload in congenital hemolytic anemia caused by pyruvate kinase deficiency. A major late complication]. 214 11

The diagnostic efficacy of hepatic computed tomography density (HCTD) in comparison with serum ferritin for the detection of iron overload was investigated in uremic patients on maintenance hemodialysis (HD) and in patients with idiopathic hemochromatosis (IHC). Ten IHC patients, 38 HD patients and 40 healthy subjects underwent the CT scanning of the liver and determination of percent saturation of transferrin, serum ferritin concentration and HLA typing. Liver iron content was determined by histochemical grading and direct measurement of liver iron concentration either in IHC patients or in HD patients. Nineteen HD patients were considered to have iron overload on the basis of liver iron concentration exceeding 3.6 mumol/100 mg dry weight. The mean +/- SD values of HCTD in healthy subjects, IHC patients, HD patients with iron overload and without iron overload were 60.2 +/- 5.6, 79 +/- 5.6, 71.4 +/- 3.6, 58 +/- 3.8 Hounsfield units, respectively. HCTD showed positive correlations with liver iron concentration and serum ferritin either in IHC patients or in HD patients. The analysis of the diagnostic efficacy of HCTD in comparison with serum ferritin for the detection of excessive hepatic iron in HD patients demonstrated that HCTD had higher sensitivity, specificity, positive and negative predictive values. Cut-off points were arbitrarily fixed to 66 Hounsfield units for HCTD, 400 micrograms/liter for serum ferritin and 3.6 mumol/100 mg dry weight for liver iron concentration. Seventeen HD patients who possessed the histocompatibility antigens associated with IHC, namely HLA-A3 and/or HLA-B7 and/or HLA-B14, had liver iron concentration, serum ferritin and HCTD values higher than those of the HD patients without these "hemochromatosis alleles".(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Efficacy of hepatic computed tomography to detect iron overload in chronic hemodialysis. 231 82

We examined the iron status of 23 adult patients with hemoglobin H (Hb H) disease. None of them had received multiple blood transfusions or prolonged iron therapy. Studies included serum iron and ferritin concentrations, transferrin saturation, a desferrioxamine test, computed tomography (CT) scan of the liver, and liver biopsy. Iron overload was found in 17 patients (73.9%), especially in males and in patients with splenomegaly (92.9% and 100%, respectively). Four patients with excessive alcohol consumption had clinical manifestations of severe iron overload. Idiopathic hemochromatosis associated HLA antigens, i.e., HLA-A3, -B7, or -B14, were not found in any of the 15 patients tested. These findings indicate that iron overload is common in adult patients with Hb H disease; such patients should abstain from alcohol and be considered for treatment with an iron chelating agent before irreversible organ damage occurs.
 ...
PMID:Iron overload in Chinese patients with hemoglobin H disease. 236 95

Idiopathic hemochromatosis is a hereditary disease that is associated with human leucocytic antigens A3, B7, and B14. A genetic association between human leucocytic antigen-linked hemochromatosis and idiopathic refractory sideroblastic anemia has been suggested that may predispose some patients with idiopathic refractory sideroblastic anemia to develop gross iron overload. Study of the family of a patient with idiopathic refractory sideroblastic anemia and hemochromatosis revealed that 2 of 5 first-degree relatives had significant elevations of serum ferritin, and a shared human leucocytic antigen haplotype, supporting the concept that patients with idiopathic refractory sideroblastic anemia and significant iron overload have at least one allele for hemochromatosis.
 ...
PMID:Iron overload complicating sideroblastic anemia--is the gene for hemochromatosis responsible? 292 65

There have been some reports on the risk of developing hemosiderosis in hemodialysis patients when heavily transfused and simultaneously possessing hemochromatosis alleles (HA). We evaluated 99 patients on chronic hemodialysis estimating their serum ferritin (SF) levels, transfusion rate, and prevalence of HLA A3, B7 and B14 alleles, which are considered to be more frequent in idiopathic hemochromatosis. We analyzed the patients as a whole group and also separately as low or high transfusion groups. There was no correlation between the number of HA and the mean SF levels. The presence of HA is not a risk factor for the development of hemosiderosis when excessive transfusions and parenteral iron administration are avoided.
 ...
PMID:Serum ferritin and hemochromatosis alleles in chronic hemodialysis patients. 322 55

We evaluated musculoskeletal complaints related to arthropathy in 28 patients with end stage renal failure receiving maintenance dialysis. Twenty-three of 28 patients had arthritic complaints and 14 had an arthropathy. Six of 14 patients with arthropathy had a pattern resembling calcium pyrophosphate dihydrate deposition (CPPD) disease, 4 patients had moderately severe osteoarthritis, 3 had calcific periarthritis, and 1 patient had acute arthritis with intermittent pain and swelling. Factors which predispose to metabolic arthropathies were observed as follows: 29% elevated ferritin; 39% history of hyperparathyroidism; 68% elevated parathormone; 54% hyperphosphatemia; 36% hypercalcemia, 29% HLA haplotypes A3, B7, or B14; and 60% hyperaluminemia. The arthropathy group had more abnormalities per patient (mean 3.6) than the group without arthropathy (mean 2.7) (p less than 0.05). Our data suggest that (1) arthritic complaints occur frequently in patients receiving dialysis; (2) arthropathy accounted for 61% of the complaints; (3) 43% of patients with arthropathy had CPPD-type; (4) renal osteodystrophy caused 17% of arthritic complaints; and (5) in patients receiving dialysis, there is a high incidence of metabolic abnormalities that are known to be associated with arthropathy.
 ...
PMID:Musculoskeletal symptoms related to arthropathy in patients receiving dialysis. 323 May 70

Serum ferritin levels were measured in 57 patients on maintenance haemodialysis to determine if patients who possessed 1 or more of the histocompatibility antigens associated with idiopathic haemochromatosis (HLA A3, B7 or B14) were at increased risk of iron overload. There was no significant difference in the mean serum ferritin levels between those patients with HLA A3, B7 or B14 (357.9 +/- 522.6 ng/1; n = 19) and those without these antigens (393.7 + 556.2 ng/1; n = 38). Iron overload in haemodialysis patients is not a histocompatibility-linked disorder.
 ...
PMID:Serum ferritin in haemodialysis patients: is there a relationship to 'haemochromatosis alleles' HLA A3, B7, B14? 348 71

The evolution of serum ferritin levels in 111 chronic-hemodialysis patients is prospectively studied. Patients were classified in two groups according to the presence or absence of 'hemochromatosis antigens' (HLA A3, B7 or B14) in their HLA typing. Levels of serum ferritin were similar in both groups before they started dialysis and during the first year. On the contrary, in the second and third hemodialysis years serum ferritin was higher in the group carrying 'hemochromatosis antigens'. These differences were observed in patients treated with parenteral iron either in the form of transfusions or as intravenous dextran-iron but not in patients receiving oral iron. We conclude that the risk of developing iron overload is greater in hemodialysis patients with HLA A3, B7 or B14. Nevertheless, this potential risk can be minimized with a restrictive policy on the use of parenteral iron (transfusions, intravenous dextran-iron).
 ...
PMID:HLA antigens and serum ferritin in hemodialysis patients. 356 19

Iron overload from repeated transfusions of RBCs in long-term hemodialysis patients is a problem of increasing clinical significance. We report on the prevalence of and diagnostic criteria for identification of hemodialysis patients with iron overload. In 150 unselected hemodialysis patients, 62 (41%) had ferritin levels greater than 2,000 ng/mL (normal = 10 to 360 ng/mL). In 16 of these patients, accurate transfusion histories were obtained and ferritin levels correlated with calculated transfusional iron burden (r = 0.553, P less than .05). These patients could be divided into two distinct groups on the basis of their response to a single dose (2 g, IV) of deferoxamine: "high" responders had twice the level of feroxamine (the chelated product of deferoxamine and iron) of the "low" responders (P less than .001). High responders also had significantly higher prevalence of the "hemochromatosis" alleles A3, B7, and B14 than a large group of dialysis patients awaiting transplantation (71% v 37%, P less than .001). In two patients with iron overload and clinically significant bone disease, bone histology revealed prominent iron staining at the calcification front. We conclude that transfusional iron overload is a significant clinical problem in long-term hemodialysis patients, that may also be associated with bone pathology.
 ...
PMID:Iron overload and mobilization in long-term hemodialysis patients. 366 50


1 2 Next >>