Serum and erythrocyte folates in combined iron and folate deficiency.
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A high incidence of iron and folate deficiency was found in 80 female subjects living in a private institution. Iron therapy in individuals with low serum iron values resulted in a significant increase in hemoglobin levels. An improvement in serum and RBC folate levels was also found following iron therapy but this could not be attributed to treatment since a similar increase was observed in untreated control subjects, probably due to an increased dietary intake of folates during the study period. In subsequent studies small amounts of pteroylglutamic acid were given to all patients and their response to therapy was related to initial serum and RBC folate values. No correlation between serum folate levels and response to folate therapy could be demonstrated. Red cell folate levels on the other hand correlated well with response to therapy. A significant increase in hemoglobin was found following folate therapy in patients with low RBC folates, but not increase in subjects with normal RBC folates. Conversely, the increase in hemoglobin following iron therapy in subjects with normal RBC folates was three times as much as in patients with low RBC folates. Thus, unlike serum folate determinations, RBC folate measurements are a reliable index of tissue folate stores, and useful in the prediction of response to folate therapy in both the iron-deficient and iron-replete states. (+info)
Surdocardiac syndrome of Jervell and Lange-Nielsen, with prolonged QT interval present at birth, and severe anaemia and syncopal attacks in childhood.
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A case of the surdocardiac syndrome of Jervell and Lange-Nielsen, with prolonged QT interval in the electrocardiogram at birth, is described. The affected girl presented 3 1/2 years later with severe iron deficiency anaemia, despite apparently adequate nutrition. At the age of 4 1/2 years she had a sudden attack of unconsciousness. Treatment with the beta-adrenoceptor blocker practolol was started and 3 years after initiation of this treatment she has been free from syncopal attacks. The QT interval remains prolonged. Her brother also had severe iron deficiency anaemia and had several attacks of unconsciousness before he died suddenly at the age of 3 1/2 years. (+info)
Erythropoietic protoporphyria and lead intoxication: the molecular basis for difference in cutaneous photosensitivity. I. Different rates of disappearance of protoporphyrin from the erythrocytes, both in vivo and in vitro.
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In lead intoxication photosensitivity is usually absent, despite concentrations of protoporphyrin in the erythrocytes equal to or greater than in erythropoietic protoporphyria. Profound differences in the distribution of protoporphyrin in aging erythrocytes were demonstrated by age-dependent fractionation of cells on discontinuous density gradients. In erythropoietic protoporphyria the concentration of protoporphyrin declined extremely rapidly with erythrocyte age; the bulk of the protoporphyrin was lost in less than 3 days and the concentration of fluorescent erythrocytes in the gradient paralleled the decline of protoporphyrin. In lead intoxication the protoporphyrin concentration declined only slightly with cell aging and erythrocytes of all ages fluoresced. In the bone marrow from a patient with erythropoietic protoporphyria all reticulocytes, but only occasional late normoblasts, fluoresced, suggesting a single population. Sterile incubation in plasma (pH 7.5) demonstrated rapid diffusion of protoporphyrin from the erythrocytes in erythropoietic protoporphyria, but not in lead intoxication. Plasma protoporphyrin was elevated in erythropoietic protoporphyria, but not in lead intoxication. Estimates of the daily loss of protoporphyrin from erythropoietic tissue in erythropoietic proporphyria suggested an order of magnitude similar to the total blood protoporphyrin. Therefore, it is not necessary to postulate a preponderant extraerythropoietic source to explain the amount of fecal excretion. A significant amount of the diffused protoporphyrin probably reaches the skin with resulting photosensitivity. In contrast, in lead intoxication protoporphyrin remains within the erythrocyte throughout its life span ; there is no diffusion into the plasma and hence no photosensitivity. (+info)
Erythropoietic protoporphyria and lead intoxication: the molecular basis for difference in cutaneous photosensitivity. II. Different binding of erythrocyte protoporphyrin to hemoglobin.
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Acidic solvents extract the same porphyrin-protoporphyrin-from the erythrocytes of patients with either erythropoietic protoporphyria or lead intoxication. However, extractable protoporphyrin disappears rapidly, both in vivo and in vitro, from erythrocytes in erythropoietic protoporphyria but slowly, if at all, in lead intoxication. Consistent with these observations, fluorescence spectroscopy revealed that the intracellular state of the erythrocyte protoporphyrin is different in the two diseases. Spectrofluorometric measurements coupled with fractionations and biochemical syntheses showed that in erythropoietic protoporphyria the protoporphyrin is bound as the free base to hemoglobin molecules at sites other than the heme binding sites. In lead intoxication the fluorescent porphyrin is also bound to hemoglobin but is present as zinc protoporphyrin. The data suggest that the zinc protoporphyrin is bound at heme binding sites. Acidic extraction solvents remove the chelated zinc, but zinc protoporphyrin may be extracted intact from erythrocytes with acetone, ethanol, or the detergent Ammonyx-LO. (+info)
Feline congenital erythropoietic porphyria associated with severe anemia and renal disease. Clinical, morphologic, and biochemical studies.
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A feline erythropoietic porphyria was studied in an affected female Siamese cat and 2 male offspring. The principal elevated porphyrins were Type I isomers of uroporphyrin and coproporphyrin; the porphyrin precursors, porphobilinogen and sigma-aminolevulinic acid, were also detected. Porphyrins were present in the blood and in all the viscera, teeth, bones, and excreta. There was severe macrocytic hypochromic anemia, hepatomegaly, splenomegaly, and uremia associated with a renal disease characterized by mesangial hypercellularity and proliferation (resulting in narrowing of glomerular capillaries) and ischemic tubular injury. There was thickening of tubular basement membranes and tubular epithelial lipidosis, degeneration, and necrosis. Electron microscopic studies of bone marrow and kidney revealed the presence of membrane-enclosed lamellar bodies 150 to 1000 nm in diameter in cytoplasmic and extracellular locations. (+info)
The zebrafish mutant gene chardonnay (cdy) encodes divalent metal transporter 1 (DMT1).
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Iron is an essential nutrient required for the function of all cells, most notably for the production of hemoglobin in red blood cells. Defects in the mechanisms of iron absorption, storage, or utilization can lead to disorders of iron-limited erythropoiesis or iron overload. In an effort to further understand these processes, we have used the zebrafish as a genetic system to study vertebrate iron metabolism. Here we characterized the phenotype of chardonnay (cdy), a zebrafish mutant with hypochromic, microcytic anemia, and positioned the mutant gene on linkage group 11. The cdy gene was isolated by a functional genomics approach in which we used a combination of expression studies, sequence analyses, and radiation hybrid panel mapping. We identified erythroid-specific genes using a whole embryo mRNA in situ hybridization screen and placed these genes on the zebrafish genomic map. One of these genes encoded the iron transporter divalent metal transporter 1 (DMT1) and colocalized with the cdy gene. We identified a nonsense mutation in the cdy allele and demonstrated that, whereas wild-type zebrafish DMT1 protein can transport iron, the truncated protein expressed in cdy mutants is not functional. Our studies further demonstrate the conservation of iron metabolism in vertebrates and suggest the existence of an alternative pathway of intestinal and red blood cell iron uptake. (+info)
Iron deficiency and dietary factors in Finland.
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In connection with a multiphasic screening program carried out in Finland, over 7,000 persons participated in a dietary survey. The method was a diet history interview concerning food consumption and habits during the previous year. The mean intake of meat products was lower in anemic women (Hb less than 12.0 g/100 ml or PCV less than 36 vol%) than in the others and in the intake of liquid milk products was higher in the anemic women. The meat product intake was lower in anemic men (Hb less than 13.0 g/100 ml or PCV less than 41 vol %) than in other men, but the milk consumption of the groups was almost equal. The intake of meat products in iron-deficient women )serum iron less than 50 mu g/100 ml or TIBC larger than or equal to 400 mu g/100 ml) was lower and the intake of milk products higher than in the other women. The intake of meat products in iron-deficient men (serum iron less than 50 mu g/100 ml or TIBC larger than or equal to 400 mu g/100 ml) was lower than in the other men and the milk consumption was almost equal. The results support earlier studies that dietary habits are significant in the etiology of iron deficiency. In the light of this population study the intake of vitamin C also seems to influence iron metabolism. (+info)
Effects of iron-deficiency anemia on cadmium uptake or kidney dysfunction are essentially nil among women in general population in Japan.
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In the present study, 1476 adult women in 6 prefectures in Japan volunteered to offer peripheral blood and spot urine samples, and to complete questionnaires on social habits and health. Blood samples were analyzed for iron, ferritin and TIBC in serum in addition to RBC, Hb and Cd in whole blood. Urine samples were analyzed for Cd, alpha1-MG, and beta2-MG; the measures were corrected for creatinine and were expressed as e.g., Cd-Ucr. Among 1212 never-smokers, 37 women with < 25 ng ferritin/ml serum and < 10 g Hb/100 ml blood were classified as the anemics, whereas 701 women with > or = 25 ng/ml ferritin and > or = 10 g/100 ml Hb were taken as controls. Matching by age and the prefecture of residence was successful for 34 anemics. Comparison (by paired t-test) of Cd in blood, and Cd, alpha1-MG and beta2-MG in urine (as corrected for creatinine) of the anemics with that of matched controls showed no significant differences. Thus, it appeared likely that the current level of iron insufficiency among general women population in Japan may not induce substantial increase in Cd absorption or Cd-associated kidney dysfunction. (+info)