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)

HLA-antigens were determined in 21 unrelated patients with idiopathic haemochromatosis and in eight siblings and 13 children of the probands. The prevalences of HLA-A3, B7, and B14 in patients compared to 1967 healthy control subjects were: A3, 76.2% versus 26.9% (p less than 0.0001); B7, 57.1% versus 26.8 (p less than 0.001); B14, 9.5% versus 4.5% (n.s.); A3 and B7, 42.9% versus 12.2% (p less than 0.0001); A3 and B14, 9.5% versus 1.4% (p less than 0.001). Siblings (n = 3) that were HLA-identical with the proband were considered to be homozygotes for the haemochromatosis allele and presented with preclinical haemochromatosis. Siblings and children (n = 17) having only one HLA-haplotype in common with the proband were considered to be heterozygotes. Biochemical markers for haemochromatosis (transferrin saturation and serum ferritin) were higher in homozygous than in heterozygous subjects (p less than 0.0001). The results confirm the association between the HLA-A and B loci and the haemochromatosis gene. HLA-typing is a valuable tool in the identification of the haemochromatosis genotype in a family, and it is an adjunct to the biochemical screening procedure in relatives of patients with this iron overload disorder.
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PMID:HLA determinants in idiopathic haemochromatosis. 405 96

Unexplained proximal muscle weakness developed in 10 patients on chronic maintenance haemodialysis. Proximal muscle biopsy in 7 patients disclosed iron deposition in muscle fibres and/or macrophages. All 10 patients had severe iron overload (serum-ferritin level > 1000 ng/ml). Since HLA-A3, B7, and B14 antigens are associated with idiopathic haemochromatosis and, therefore, are linked with alleles regulating iron metabolism, HLA type was reviewed in 61 haemodialysis patients, including the 10 myopathic patients. Serum-ferritin levels showed a significant correlation (p<0.001) with the presence of the HLA-antigens. Close relatives of these patients with HLA-antigen-associated iron-overload myopathy did not have raised serum-ferritin levels. Patients on maintenance haemodialysis who have inherited the "haemochromatosis alleles" thus have an increased risk of iron overload and muscle iron deposition.
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PMID:iron-overload-associated myopathy in patients on maintenance haemodialysis: a histocompatibility-linked disorder. 610 46

In 48 patients on maintenance haemodialysis (HD), serum ferritin (SF) levels were measured and compared with 'haemochromatosis alleles', (HA), HLA A3, B7 and B14. A positive correlation was found between high SF levels and the presence of HA. When patients who had received 10 or fewer blood transfusions were studied, it was observed that this correlation did not exist, but it was evident, however, in patients who had received more than 10 blood transfusions. After 14 months in which blood transfusions were restricted, no significant difference in SF was observed between HA carriers and the rest. Our findings suggest that repeated blood transfusions can cause high SF in HD patients, especially in those with HLA A3, B7 or B14 antigens. Among our patients, restriction of blood transfusions seems sufficient to decrease high SF levels.
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PMID:Serum ferritin in haemodialysis patients: role of blood transfusions and 'haemochromatosis alleles' HLA A3, B7 and B14. 660 19

Erythropoietic response to exogenously administered recombinant human erythropoietin (rHuEpo) was examined in 11 maintenance haemodialysis patients with iron overload (IO). All had required numerous blood transfusions earlier (> 12 units/year). Diagnosis of IO was established by high serum ferritin (SF) levels (> 1,100 micrograms/l), high hepatic CT density (> 70 Hounsfield units; HU) and excessive iron stores in bone marrow aspirate (grade 6). None of the patients had osteitis fibrosa cystica, aluminium intoxication, haemoglobinopathy or haemochromatosis alleles (HLA A3, B7 and B14). All patients responded to rHuEpo treatment (target haemoglobin level of 9-10 g/dl). None of the patients required iron supplementation or developed 'functional anaemia'. During 30 +/- 3 months of therapy, the initial maintenance dose of rHuEpo (103 +/- 12 units/kg/week) and median SF levels (2,250 micrograms/l) fell (50 +/- 8 units/kg/week and 1,060 micrograms/l, respectively) (p = 0.0003 and 0.0007). The initial and final rHuEpo doses correlated well with the respective SF levels (r = 0.89, p < 0.001). The maintenance dose of rHuEpo required for patients with IO at the start of the treatment period was significantly higher than that (50 +/- 5 units/kg/week) required by a control group of patients with adequate iron stores (SF = 100-600 micrograms/l) who were matched for age, sex and frequency of previous blood transfusions (p = 0.002). The findings suggested that excessive IO caused relative resistance to erythropoiesis on exogenous administration of rHuEpo and that iron supplementation was not warranted during rHuEpo therapy in those patients.
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PMID:Erythropoietin treatment in haemodialysis patients with iron overload. 809 34


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