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 chronic hemodialysis case, a 46-year-old woman with secondary hemosiderosis induced by parenteral iron and blood transfusion due to a refractory anemia, was effectively treated with recombinant human erythropoietin and the removal of red blood cells. The cumulative dose of the iron removed was 5,712 mg. Plasma ferritin decreased from 8,290 to 2,203 micrograms/l during 18 months. Concomitantly, liver histology performed before and after the therapy revealed a prominent regression of the deposited iron.
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PMID:Correction of serious iron overload in a chronic hemodialysis patient by recombinant human erythropoietin and removal of red blood cells: confirmation by follow-up liver biopsy. 207 17

Low-density blood cells from patients with refractory anemia with excess of blasts (RAEB) and RAEB in transformation (RAEB-T) release a high molecular weight inhibitory substance that reduces the entry of normal progenitor cells of granulocytes and macrophages (CFU-GM) into the S-phase. Out of 20 patients with refractory anemia (RA and RAS) only 3 were positive. One patient with CMML was negative. Serial examination of 3 patients (two RA and one CMML) revealed that the production of the inhibitory activity preceded the development of the disease into RAEB, RAEB-T, or AML. With one exception, the inhibitory activity in positive cases was neutralized by antiserum against human placental ferritin.
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PMID:Inhibitor of normal granulopoiesis produced by cells of MDS patients. 270 26

Striopallidodentate calcinosis (Fahr's disease) is characterized clinically by seizures, rigidity, and dementia and pathologically by mineral deposition in the basal ganglia, dentate nucleus, and cerebral cortex. Disorders of iron and calcium-phosphate metabolism are thought to play a role in its pathogenesis. We present the case of a patient with familial striopallidodentate calcinosis who had porphyria cutanea tarda, refractory anemia, and pseudohypoparathyroidism type 2. The serum level of ferritin was markedly increased, serum iron and iron-binding capacity were below normal, and at autopsy she had deposition of iron in liver, spleen, bone marrow, and brain. She showed intermittent mild hypocalcemia, increased serum values of parathyroid hormone, elevated renal tubular reabsorption of phosphate, and low serum levels of 1,25-dihydroxyvitamin D, suggesting blunted renal responsiveness to endogenous parathyroid hormone. Pseudohypoparathyroidism type 2 was confirmed by infusion of synthetic parathyroid hormone, which gave a normal urinary cyclic adenosine monophosphate response, but a blunted phosphaturic response. After splenectomy for hypersplenism and weekly phlebotomies, she showed progressive improvement in function, mental status, weight, and seizure control. The hypothesis advanced is that the underlying pathophysiology of the separate diseases contributed to the formation of the brain stones through mechanisms of defective iron transport and free radical production.
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PMID:Abnormal systemic metabolism of iron, porphyrin, and calcium in Fahr's syndrome. 281 30

Refractory macrocytic anemia with hypolobulated megakaryocytic nuclei and partial deletion of the long arm of chromosome 5 has been termed the 5q- syndrome. Although long survival has been reported in a few cases of 5q- refractory anemia, accumulating evidence suggests that this syndrome is a preleukemic state with risk of transformation to acute nonlymphocytic leukemia as well as complications of bone marrow failure. This report describes the first apparently successful therapy for this disorder in a young man who originally presented with a clinical picture consistent with pure red cell aplasia and normal marrow chromosomes but with hypolobulated megakaryocytic nuclei. He was treated with vitamins, androgens, and sequential trials of immunosuppressive therapy, all without response. Two years after diagnosis, repeated marrow cytogenetic studies showed a 5q- abnormality in 70 percent and later in 100 percent of marrow metaphases. Because of transfusion-induced hemosiderosis and the availability of a cytogenetically normal monozygotic twin, bone marrow transplantation was undertaken. In light of the clonal (and suspected preleukemic) nature of the 5q- syndrome, the patient's marrow was ablated with a busulfan plus cyclophosphamide regimen used for patients with nonlymphocytic leukemia. Sustained engraftment of cytogenetically normal marrow ensued. Two years after transplantation, and following six months of regular phlebotomy, the patient was hematologically normal with a normal serum ferritin level.
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PMID:Hematologic and cytogenetic remission of 5q-refractory anemia after syngeneic bone marrow transplantation. 308

Ferritin H (heavy) and L (light) subunits in red cells were determined in normal subjects, patients with myelodysplastic syndrome (MDS) and other haematological disorders by means of enzyme-linked immunosorbent assay (ELISA) using monoclonal antibodies to ferritin H and L subunits. The mean contents of ferritin H and L subunits in red cells in healthy individuals were H 8.0 + 0.8 attogram (ag)/cell (lag = 10 x 10(-18)g)(mean +/- SE), L 4.8 +/- 0.4 ag/cell respectively. The values of both subunits in normal male (H 10.5 +/- 1.3 ag/cell, L 5.9 +/- 0.7 ag/cell) were significantly higher than those of normal female (H 5.4 +/- 0.8 ag/cell, L 3.9 +/- 0.5 ag/cell). Significantly elevated H and L subunit contents in red cells were observed in patients with refractory anemia (RA)(H 138.2 +/- 72.0 ag/cell, L 57.0 +/- 20.9 ag/cell) and refractory anemia with excess of blasts (RAEB)(H 97.4 +/- 36.9 ag/cell, L 49.3 +/- 18.4 ag/cell) as compared with those of normal subjects. On the other hand, both parameters decreased in patients with iron deficiency anemia (IDA)(H 2.4 +/- 0.3 ag/cell, L 1.5 +/- 0.3 ag/cell). H/L ratio in patients with RA (2.7 +/- 0.5) was significantly higher than those of normal subjects (1.8 +/- 0.1) indicating relative increase of red cell ferritin H subunit in patient with MDS. The measurement of red cell ferritin H and L subunits by ELISA could be useful for evaluating dyserythropoiesis or ineffective hemopoiesis in MDS.
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PMID:[Clinical significance of red cell ferritin H and L subunits in myelodysplastic syndrome]. 792 83

The purpose of this study was to improve erythropoiesis in patients with anemia due to myelodysplastic syndromes (MDS). We treated 13 patients first with recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF) for 6 weeks, then with recombinant human erythropoietin (rhEpo) and rhGM-CSF for the next 12 weeks. Five patients had refractory anemia (RA), 3 refractory anemia with ringed sideroblasts (RAS), and 5 refractory anemia with excess of blasts (RAEB). Ten patients were transfusion-dependent at the time of inclusion. Eleven patients completed this phase II study. Five responded with an increase in hemoglobin level (3 patients) or a reduction in transfusion requirement (2 patients). We registered no response in the remaining 6 patients during treatment. Patients responding to combined treatment had relatively low concentrations of plasma Epo and plasma ferritin before treatment with rhEpo and a normal karyotype throughout the study. Long-term bone marrow cultures did not predict the response. Still, responders seemed to have a higher number of colony-forming progenitors than nonresponders. In conclusion, combined therapy with rhGM-CSF and rhEpo may stimulate hematopoiesis and correct or improve anemia in some patients with MDS.
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PMID:Recombinant human granulocyte-macrophage colony-stimulating factor plus recombinant human erythropoietin may improve anemia in selected patients with myelodysplastic syndromes. 823 92

The red cell ferritin (rFt) level in 10 patients with refractory anemia (RA) was measured and analyzed by column isoelectric focusing (IEF). The levels in 9 of the 10 patients (90.0%) were higher than the upper limit in healthy controls (MV +/- SD: male 14.3 +/- 10.3 ag/cell, female 7.5 +/- 3.6 ag/cell). The isoelectric point (pI) of rFt determined by IEF in healthy subjects ranged from 5.1 to 5.7. However, the pI ranges for RA patients varied widely; the pI value was thought to correlate with the severity of the morphological abnormalities of bone marrow (BM) erythroblasts. That is, the greater the proportion of morphologically abnormal erythroblasts with respect to all erythroid precursors, the lower the pI range for rFt. The rFt content was not related to serum iron, transferrin saturation, serum ferritin, reticulocyte count, red cell iron content, or BM erythroblast count. These data suggest that rFt synthesis in RA patients is influenced by factor(s) other than iron; this is considered an essential feature of erythropoiesis in myelodysplastic syndrome (MDS).
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PMID:Quantitative and qualitative studies of red cell ferritin in refractory anemia of myelodysplastic syndrome. 834 42

Recent studies have pointed to the relationship between iron deficiency anemia and celiac disease, although data on the prevalence of celiac disease in anemic patients have been conflicting, and there is no agreement on the best screening procedure for CD in these patients. Our aims were to evaluate the relationship between anemia and celiac disease (CD) from two different points of view--the hematology clinic and the pediatric gastroenterology department--and to evaluate the utility of anti-endomysial antibody determination in screening anemic patients for CD using human umbilical cord as substrate. We studied 130 patients with CD (58 males, 72 females; median age 18 months) diagnosed at a department of Pediatric Gastroenterology, and 85 patients with iron deficiency anemia (38 males, 47 females; median age 48 years) observed at a hematology outpatient clinic. From the 85 adult patients with iron deficiency anemia, we selected a subgroup of 25 subjects with no improvement in Hb after two months of iron therapy (80 mg/day orally). Routine hematochemical tests were performed in all 215 patients. All pediatric and adult subjects underwent immunological screening for celiac disease (AGA and EmA assay); intestinal biopsy was also performed on patients testing positive. In the adult anemic patients a serum sample was stored at -20 degrees C on first observation, and after 6-18 months EmA on human umbilical cord were assayed. In the pediatric patients with CD, anemia was observed in 91/130 patients (70% of cases, the most frequent symptom after poor growth); however, this was the only presenting symptom of CD in 2/130 patients (1.5% of cases). Anemia was sideropenic in 41/91 patients (iron <45 microg/dl, ferritin <15 microg/liter). In the adult patients with iron deficiency anemia, immunological screening (AGA and EmA) showed suspected CD in 5/85 cases (5.8%), with diagnosis confirmed on intestinal biopsy. These five patients were in the subgroup of iron supplementation therapy nonresponders. CD prevalence in the refractory anemia subgroup was, therefore, 5/25 (20%). On diagnosis the hematological indices of the anemia + CD patients were not different than those of the refractory anemia patients without CD. The median age of the CD + anemia patients was significantly lower than that of the whole group of anemic subjects, and there was also a prevalence of females (4/5 cases). The results of the EmA determination on human umbilical cord in the adult anemic patients showed a perfect concordance with those using a traditional kit that uses monkey esophagus as substrate. In the pediatric age group many cases of CD with anemia as the only sign of the disease are probably not diagnosed. In our adult patients with sideropenic anemia, CD prevalence was 5-6%; however, the observation of anemic patients not responding to oral iron therapy makes a diagnosis of CD much more probable. EmA determination on human umbilical cord is the most logical approach to screen anemic patients for suspected CD.
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PMID:Sideropenic anemia and celiac disease: one study, two points of view. 953 67

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

Transfusion of RBC units, the only current treatment for many myelodysplastic syndromes, and excess intestinal absorption of Fe related to dyserythopoiesis often result in iron overload. This condition is associated with high rates of morbidity and mortality. High-risk patients include those with refractory anemia, sideroblastic anemia, 5q-syndrome, patients with a good prognosis (low or lower intermediate international prognosis score), patients having received over 100 RBC units, and patients under the age of 70. Deferoxamine, while it can prevent iron overload, is a strenuous treatment requiring 8-to-12 hour-overnight subcutaneous injections. When patients comply with the regimen, it efficiently prevents mortality due to iron overload, but must be implemented early in the disorder, usually before transfusing 20 RBC concentrates. A simple way of monitoring iron overload is to measure seric ferritin levels and record the number of RBC concentrates. The chelating treatment should be modulated according to age, MDS type, international prognosis score, number of RBC units received, ferritin levels, and most of all, patient tolerance. The direct subcutaneous approach is currently being evaluated by the French Group for Myelodysplasias for its efficiency to prevent disorders, but seems to be both efficient and well complied with (a national protocol is under way). The recent findings on the proteins implied in iron recycling by macrophages after destruction of RBCs, may in the long term, enable us to manage patients with less burdensome treatments and more effective new oral chelates.
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PMID:[Iron overload and myelodysplastic syndromes]. 1172 96


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