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)

Type I dyserythropoietic anaemia was diagnosed in an infant, who presented with respiratory distress and hepatosplenomegaly soon after birth. Anaemia became manifest during the neonatal period. The case clearly proves the congenital nature of the disease. Abnormalities of the myelopoietic series indicate that it might be a stem cell disease and the presence of skeletal anomalies of the hands suggests a genetic relationship to some cases of Fanconi and Diamond anaemia. No serum lipid or vitamin E deficiency was present as in type II congenital dyserythropoietic anaemia. Serial serum ferritin determinations indicated that iron stores are increased early in type I congenital dyserythropoietic anaemia despite no transfusion load.
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PMID:Type I congenital dyserythropoietic anaemia with myelopoietic abnormalities and hand malformations. 69 20

The association between plasma ferritin concentration and vitamin A and E status was studied in 17 children aged 15-72 months with severe oedematous malnutrition. The controls were 10 children of similar age who were apparently well and with no obvious signs of clinical malnutrition. Plasma ferritin concentration in the patients was significantly higher than that in the control children. Conversely, the plasma concentrations of beta-carotene, alpha-tocopherol and retinol in patients were significantly lower than those in plasma of control children. The median (interquartile range) plasma alpha-tocopherol concentration of patients, 6.03 (5.29-9.50) mumol/l, is below the threshold of vitamin E deficiency (11.6 mumol/l). Fifteen of 17 (88%) malnourished patients were found to have plasma tocopherol concentrations below the normal threshold. However, all the patients had a tocopherol: cholesterol ratio greater than 2.22, indicating adequate vitamin E status for the level of cholesterol present in plasma. Twelve of 17 patients (70.5%) had plasma retinol concentration less than 0.70 mumol/l, indicative of marginal vitamin A status, while 3 patients had plasma retinol concentrations less than 0.35 mumol/l, indicating vitamin A deficiency. The median (interquartile range) plasma retinol concentration of patients, 0.51 (0.41-0.93) mumol/l, is significantly less than that of control children, 0.96 (0.74-1.09) mumol/l; p less than 0.01 Mann Whitney U test. Furthermore, anaemia (Hb less than 110 g/l) was widespread in the patients. The results also indicate no significant correlation between elevated ferritin concentration and the concentrations of beta-carotene, retinol and alpha-tocopherol in the patients' plasma.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Plasma ferritin concentration in relation to vitamin A and E status of children with severe oedematous malnutrition. 171 50

Weanling rabbits were fed a purified diet with or without vitamin E supplementation to evaluate the abnormal sequestration of iron in skeletal muscle associated with vitamin E deficiency. A severe myopathy developed in unsupplemented rabbits within 3 to 4 weeks. At this time, the concentration of soluble nonheme iron in biceps femoris muscles had increased from 2.1 +/- 0.4 microgram/g wet weight (mean +/- SD) for six control rabbits to 4.3 +/- 1.4 for 10 vitamin E-deficient rabbits, and total nonheme iron had increased from 5.0 +/- 1.2 to 8.4 +/- 3.3. Soleus muscles had even greater increases in total and soluble nonheme iron concentrations. Intramuscular injection of iron-dextran caused large increases in total and soluble nonheme iron in noninjected muscle of vitamin E-deficient rabbits, which further exaggerated the difference between the two groups. By radioimmunoassay using an antibody to rabbit liver ferritin, the concentration of ferritin in biceps femoris muscles increased from 0.47 +/- 0.18 microgram/g wet weight for seven control rabbits to 6.34 +/- 1.70 for 14 vitamin E-deficient rabbits. Uptake of intravenously injected transferrin-bound iron into muscle of vitamin E-deficient rabbits was not increased in a short term experiment (6 h), but radioiron did accumulate in muscle in a long term experiment (6 days). There was no trapping of heat-damaged erythrocytes, no phagocytosis of intravenously injected carbon particles, and no erythrophagocytosis in muscle. An immunohistological staining method designed to detect ferritin in tissue sections stained muscle from normal rabbits very scantily but intensely stained macrophages in the muscle of vitamin E-deficient rabbits.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Iron is sequestered as ferritin in macrophages in skeletal muscle of vitamin E-deficient rabbits. 638 6

Significant alterations in hemotologic function in cystic fibrosis are suggested by the observation that polycythemia is uncommon, even among cyanotic patients. To elucidate those factors that influence hematologic equilibrium, 39 stable patients with cystic fibrosis were evaluated with regard to hemoglobin, hematocrit, RBC indices, reticulocyte count, serum iron and total iron binding capacity, serum ferritin, vitamin E, and carboxyhemoglobin levels. Hemoglobin concentrations were below the 50th percentile for age in 90% of the patients, including the 23% who were cyanotic. Serum ferritin levels were below the mean for age in 85% and below 12 ng/mL in 33% of patients. Vitamin E levels were less than 5 micrograms/dL in 33%, indicating deficiency. Carboxyhemoglobin values were elevated in 64% of the patients. These data indicate that relative anemia is common in cystic fibrosis and suggest that iron and vitamin E deficiency may contribute to that anemia. Twenty-two patients with cystic fibrosis were then given 2 weeks of oral iron therapy followed by two to three additional weeks of iron and vitamin E. This therapeutic trial resulted in an increase in mean hemoglobin concentration from 13.87 to 14.50 g/dL (P less than 0.01) associated with a significant increase in levels of serum ferritin (P less than 0.001). The increase in hemoglobin occurred primarily during the second 2 weeks when patients were receiving both iron and vitamin E. However, we were unable to document evidence of increased hemolysis when patients were receiving iron therapy alone. This response to oral iron therapy is confirmation that iron deficiency contributes to the failure of some patients with cystic fibrosis to compensate hemotologically for hypoxia.
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PMID:Relative anemia and iron deficiency in cystic fibrosis. 683 67