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)

A previous study conducted on a group of Afrikaans-speaking subjects in the south-western Cape indicated a high frequency (0.115) of the HLA-linked iron-loading gene which causes idiopathic haemochromatosis. The results of phenotypic and genotypic studies on the first degree relatives of identified homozygotes and heterozygotes are now reported. There was considerable heterogeneity of phenotypic expression in the group of heterozygotes, with overlap between the homozygous and heterozygous subjects. The heterozygous relatives of heterozygous index cases, who had been identified on the basis of a serum ferritin concentration greater than 400 micrograms/l, appeared to have more frequent and more marked abnormalities of iron measurements than the heterozygote relatives of homozygous index cases (serum ferritin value greater than 400 micrograms/l, percentage transferrin saturation greater than 60). This suggests that the screening test was identifying a group of more significantly affected heterozygotes, with biochemical abnormalities that overlapped with the identified homozygotes. The index cases were followed up over a period of 5 years and during this time the 7 subjects diagnosed as heterozygotes showed a progressive increase in serum ferritin concentrations, which suggests some iron accumulation. Individual pedigrees included instances of gene recombination within the major histocompatibility complex, and of probable false-positive genotype assignment. The overall results confirm a high frequency of the gene in this particular community.
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PMID:Phenotypic expression of the HLA-linked iron-loading gene in the Afrikaner population of the western Cape. 334 78

A simple, robust, inexpensive and reasonably accurate screening test, which involves colorimetric assessment of the unsaturated iron-binding capacity, was used to detect significant degrees of iron overload in a field setting. It was used in a survey of 152 men aged over 40 years who had previously been identified as having serum ferritin values above 400 micrograms/l and who were therefore potentially homozygous carriers of the HLA-linked iron-loading gene responsible for the clinical disorder idiopathic haemochromatosis (IHC). Such individuals almost always have a raised transferrin saturation and the screening test was compared with a standard method of measurement. The screening test accurately identified 7 out of 10 subjects with transferrin saturations above 62%. It also accurately identified 137 out of 142 subjects with saturation below 62%. There were 5 false-positive results; in all these subjects saturations were at the upper limit of normal or marginally raised. The test thus had a sensitivity of 77%, a specificity of 97%, an accuracy of 95% and a positive predictive accuracy of 67%. The test successfully identified a subgroup of subjects with serum ferritin values above 400 micrograms/l who appeared to have more severe degrees of iron overload. The screening test, which requires only 200 microliter serum and costs only 6.2 c, should not only be of potential value in identifying subjects at risk of developing the clinical manifestations of IHC but may prove even more useful in defining the prevalence of significant iron overload in the rural black population of South Africa.
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PMID:A screening test for detecting iron overload in population studies. 340 74

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.
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PMID:Serum ferritin in haemodialysis patients: is there a relationship to 'haemochromatosis alleles' HLA A3, B7, B14? 348 71

Monoclonal antibody F30 was produced by the fusion of murine myeloma cell line P3-X63-Ag8-653 with spleen cells from a BALB/C mouse immunized with established human pancreatic cancer cell line (PK-1) and the reaction specificity was analyzed. The antigen recognized by monoclonal antibody F30 was different from HLA-associated antigen, beta 2-microglobulin, fetal bovine serum components, ferritin, AFP, or CEA. Monoclonal antibody F30 reacted with all of six pancreatic cancer cell lines established in our laboratory. Cross-reactivity was detected with a colon cancer cell line or an esophagus cancer cell line among various tumor cell lines tested. No reaction was detected with red blood cells, lymphocytes, or lymphoid and myeloid cell lines. By immunoperoxidase staining of frozen sections, the F30-defined antigen was detected not only on pancreatic cancer cell membrane but also on other adenocarcinomas. In addition, the monoclonal antibody F30 had a more wide-spread distribution on normal epithelial cells in the gastrointestinal organs, respiratory system, and urinary system. F30-defined antigen was composed of two protein components with molecular weight of 190 and 160 K. It was indicated that the antigen was an integral protein in the cell membrane since the antigen was not detected in the spent culture medium of antigen-positive cells.
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PMID:Human pancreatic cancer associated antigen detected by monoclonal antibody. 351 31

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).
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PMID:HLA antigens and serum ferritin in hemodialysis patients. 356 19

Iron supplementation is commonly recommended in uremic patients undergoing regular dialytic treatment in order to correct a presumed iron deficiency due to impaired absorption and dialytic losses. Serum ferritin levels show an iron overload in 83% of 136 patients on 1.25 g/year i.v. iron therapy. After the withdrawal of iron therapy, directly correlated ferritin levels and percentage transferrin saturation decreased slowly, except in carriers of HLA-A3 antigens and in polytransfused patients. In these latter patients, desferrioxamine reduced but did not normalize the iron balance. The 16 patients who never received iron therapy showed a normal iron balance over a 3-year follow-up. Despite iron-ferritin therapy, 11 patients with baseline ferritin values at the lower normal limits showed a tendency toward further depletion. Orally administered bivalent iron seems to be more promising in normalizing iron-deficient patients without potentially harmful overloading.
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PMID:Three-year follow-up after withdrawal of iron therapy in uremic patients on regular dialytic treatment. 357 49

HLA typing for the A and B loci was carried out in conjunction with measurements of iron status on 38 of the first-degree relatives of 8 patients suffering from idiopathic haemochromatosis (IHC). Seven of the 8 probands had the A3 allele, 2 in the homozygous form. Seven had the B7 allele and in 5 it was present with the A3 allele on the same chromosome. Six family members were diagnosed as homozygous for the HLA-linked iron-loading gene on the basis of genotype assessment, while 27 were assessed as being heterozygous. Five of the 6 homozygous subjects had developed significant iron overload. In contrast, disturbances of iron metabolism in the heterozygotes were mild and present in only 33%. Pseudodominant inheritance of IHC was noted in one family, presumably as the result of a homozygous/heterozygous mating. A pilot epidemiological survey was carried out on 222 Afrikaans-speaking men in an attempt to find affected individuals using the serum ferritin concentration as the screening test. One homozygous subject was identified (genotype A3, B7/A3, B7) and further family studies confirmed the presence of the HLA-linked iron-loading gene. These preliminary results suggest a disease frequency of about 4-5/1,000 in the Afrikaner population.
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PMID:Idiopathic haemochromatosis. Family studies and results of a pilot prevalence survey. 357 85

In order to assess the previously reported association of HLA-linked idiopathic haemochromatosis with idiopathic refractory sideroblastic anaemia (IRSA), the prevalence of HLA-A3 antigen in a group of 22 patients with IRSA was compared to that observed in healthy controls and in patients with homozygous idiopathic haemochromatosis and to that calculated for a population heterozygous for idiopathic haemochromatosis. The prevalence of A3 in patients with IRSA (0.23) was quite similar to that observed in controls (0.29) and significantly different from that observed in homozygous (0.73; P less than 10(-5] and heterozygous (0.57; P less than 10(-3] haemochromatosis. Serum iron, transferrin saturation, serum ferritin and liver iron concentration showed no difference in IRSA patients with or without A3. It is concluded that there is neither systematic association between the haemochromatosis allele and IRSA nor systematic implication of such an allele in the development of iron overload observed in IRSA.
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PMID:Is the HLA-linked haemochromatosis allele implicated in idiopathic refractory sideroblastic anaemia? 387 56

Hereditary hemochromatosis is inherited in an autosomal recessive manner with partial biochemical expression in heterozygotes. A high percentage of saturation of serum transferrin is the hallmark of the disorder, and serum ferritin concentration gives an approximate estimation of the size of iron stores. Hepatic computed tomography, magnetic susceptometry, and nuclear magnetic resonance provide new noninvasive ways of determining hepatic iron content, but chemical estimation of iron in a percutaneous liver biopsy specimen remains the mainstay of diagnosis. Once a proband is identified, transferrin saturation and serum ferritin are used to screen family members and HLA typing is employed selectively to detect homozygotes at risk. Removal of excess body iron and maintenance of normal iron stores by repeated venesection arrests tissue injury and prolongs survival.
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PMID:Diagnosis and management of hereditary hemochromatosis. 388 53

Iron overload is relatively common and is now detected more frequently because of inclusion of serum iron measurement in automated clinical chemistry panels. Secondary hemosiderosis and hemochromatosis result from increased iron absorption associated with increased erythropoiesis compensating for hemolysis, increased dietary iron, inappropriate prolonged oral iron therapy or chronic multiple transfusions. Primary hemochromatosis is a genetic metabolic disorder associated with the HLA locus on chromosome 6 resulting in increased iron absorption, though erythropoiesis and dietary iron are normal, and abnormal diversion of iron from reticuloendothelial (RE) to parenchymal cells. A genetic increase of intracellular iron carrier is a proposed basic mechanism. Only in the cirrhotic stage of primary hemochromatosis do RE iron and serum ferritin increase. Since both serum iron and serum ferritin may remain normal in the precirrhotic stage and may be falsely positive in the absence of iron overload, direct measurement of body iron stores is often useful. Measurement of tissue iron in liver biopsy specimens is widely used. However, quantitation of total mobilizable body iron by measurement of a 6-hour urine collection after intravenous injection of 59Fe-DTPA is noninvasive, sensitive, relatively accurate, and together with other laboratory and clinical data provides a practical means of establishing the correct diagnosis and therapy early enough to minimize organ damage.
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PMID:Iron overload syndromes. 395 74


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