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)

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

The laboratory evaluation of anemia begins with a complete blood count and reticulocyte count. The anemia is then categorized as microcytic, macrocytic or normocytic, with or without reticulocytosis. Examination of the peripheral smear and a small number of specific tests confirm the diagnosis. The serum iron level, total iron-binding capacity, serum ferritin level and hemoglobin electrophoresis generally separate the microcytic anemias. The erythrocyte size-distribution width may be particularly helpful in distinguishing iron deficiency from thalassemia minor. Significant changes have occurred in the laboratory evaluation of macrocytic anemia, and a new syndrome of nitrous oxide-induced megaloblastosis and neurologic dysfunction has been recognized. A suggested approach to the hemolytic anemias includes using the micro-Coombs' test and ektacytometry. Finally, a number of causes have been identified for normocytic anemia without reticulocytosis, including normocytic megaloblastic anemia and the acquired immunodeficiency syndrome.
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PMID:Laboratory evaluation of anemia. 357 35

One hundred pregnant women, not anemic and not receiving iron or vitamin supplements, were chosen at random among the three trimesters of pregnancy to determine the incidence of unexpected iron, plasma folate and/or cobalamin deficiency, and the significance of fluctuating levels of their respective binding proteins. Pregnant females had a nonsignificant fall in serum iron and a fourfold decline in serum ferritin in the 3rd trimester compared with 1st trimester values. There was a steady decrease in plasma cobalamin and cobalophilin levels in every trimester but no difference in transcobalamin II values. Unsaturated cobalamin (UBBC) and unsaturated transcobalamin binding capacity (UTCBC) were lower in the 1st trimester fully recovering afterwards. Plasma folate levels were not lower, although there was a steady reduction in total and unsaturated folate binding capacity throughout pregnancy.
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PMID:Levels of iron, vitamin B12, folic acid and their binding proteins during pregnancy. 393 22

The DNA of 287 healthy white elderly volunteers in the New Mexico Aging Process Study, between 63 and 91 years of age, was examined for mutations of the HLA-H gene at nt 845 and nt 187. None were found to be homozygous for the 845A mutation and there were no gender differences in the percentage of the various mutations. The frequency of the 845A mutation was 0.061 resulting in a carrier frequency of 12.2%. The frequency of the 187G mutation was 0.136 resulting in a carrier frequency of 19.9% for a single mutation; 2.4% were compound heterozygous, 834A/187G and 2.4% were homozygous for the 187G mutation. After excluding 5 men and 4 women with microcytic or macrocytic anemia, mean percent transferrin saturation (PSAT) and iron stores, as estimated from serum ferritin concentrations, were calculated for each mutation. Estimated iron stores were normally distributed (range approximately 50 to 1,550 mg) with men (n=111) having significantly higher mean estimated iron stores than women (n=167), 826 +/- 318 and 753 +/- 287 mg, respectively. More men, 15 of 28, (54%) with estimated iron stores in the upper quartile, >/= 1,050 mg, had a HLA-H mutation compared to 25 of 83 (30%) who had a mutation and whose estimated iron stores were < ,050 mg, P<0.05. Seven were heterozygous for the 845A mutation with mean estimated iron stores of 1,300 +/- 127 mg, 7 were heterozygous for the 187G mutation with mean estimated iron stores of 1,439 mg. Similar differences were not noted in women. Even though the potential role of the 187G mutation in the phenotypic expression of HH is less certain than the 845A mutation, the increase in PSAT seen in men with the 187G mutation and the equal distribution of 845A and 187G mutations seen with iron stores >/= 1,050 mg lends support for the involvement of the 187G mutation, or a linked mutation, in iron metabolism. We concluded that men having either a single chromosomal 845A and/or 187G mutation results in higher PSAT's and estimated iron stores than if no HLA-H mutation were present.
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PMID:Impact of HLA-H mutations on iron stores in healthy elderly men and women. 941 Apr 71

Anemia is a frequently observed manifestation during the clinical course of chronic liver disease. In this study, we retrospectively reviewed the hospital files of 500 chronic liver disease patients and assessed the frequency, etiology and morphology of anemia in 50 patients who fulfilled the criteria to be included in the study. The mean age of the patients was 48+/-16 years and male/female ratio was 1.4/1. The mean hemoglobin value was 9.54+/-2.03 g/dl. The mean MCV was 82.9+/-10.52 fl. Iron deficiency anemia, defined as absent bone marrow iron stores, was the most common anemia present in 50% of patients. Classical laboratory criteria used in the diagnosis of iron deficiency anemia (MCV < 80 fl, ferritin < 10 ng/ml) could not be applicable to all of the patients with iron deficiency anemia and hepatic disorders. Hemolytic anemia due to hypersplenism was the second most common anemia (24%) followed by anemias, namely anemia due to gastrointestinal hemorrhage (22%), anemia of chronic disease (8%), beta-thalassemia major (8%), folate deficiency (6%), vitamin B12 deficiency (4%), macrocytic anemia (2%), aplastic anemia (2%) and immune hemolytic anemia (2%). Twenty-eight percent of the patients had more than a single cause of anemia. Morphologically, microcytic anemia was the most common seen in 46% of the patients followed by normocytic (42%) and macrocytic anemia (12%). As patients do not always present with classical laboratory findings and may have more than a cause of anemia, a complex diagnostic approach should be considered in anemic patients with hepatic disorders.
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PMID:Erythrocytes: Anemias in Chronic Liver Diseases. 1139 3

Iron-deficiency anemia is one of the major problems encountered in renal transplant recipients. The aim of this retrospective study was to reevaluate the causes of anemia among 100 anemic kidney recipients. Patients with serum creatinine levels greater than 2 mg/dL were excluded from the study. Female patients were considered to be anemic if the hemoglobin was <12 g/dL for males, <13 g/dL. Complete blood count, serum creatinine, serum iron, iron-binding capacity, ferritin, transferrin saturation, erythrocyte folate, and serum vitamin B(12) levels were measured in all patients. Mean hemoglobin value was 10.2 +/- 1.4 g/dL for female and 9.9 +/- 1.3 for male patients, mean corpuscular volume (MCV) 91.3 +/- 4.9 fL. We observed normocytic anemia in 60, macrocytic anemia in 30, and microcytic anemia in 10 patients. A low level of serum folate was observed in 9 (15%) and of vitamin B(12) in 5 (8.8%) of 60 patients with normocytic anemia. Folate deficiency was found in 18 (60%) and vitamin B(12) deficiency in 12 (40%) of 30 patients with macrocytic anemia. All patients with microcytic anemia had iron deficiency. Splenomegaly was seen significantly more often in patients with macrocytic than normocytic anemia (P =.008). Folate and vitamin B(12) deficiency were the major causes of nutritional anemia; oral or parenteral supplementation with these vitamins is likely to cure the anemia in the majority of cases.
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PMID:Causes of anemia in renal transplant recipients. 1501 34

Laboratory investigation plays a crucial role in the workup of hematological disease. The well established method of morphological analysis of blood components has been continuously complemented by other methods. On one hand, these consist of considerable improvements of methods employed for automated cell enumeration allowing for early and accurate detection of cell subpopulations, and quantification of valuable red cell parameters, which are of use in the differential diagnosis of anemia. On the other hand, several parameters for the differentiation of microcytic anemia have become available often allowing for the sometimes difficult diagnosis of anemia of chronic disease, iron deficiency anemia, or thalassemia (ferritin, soluble transferrin receptor, transferrin saturation, RDW, zinc protoporphyrin, as well as reticulocyte indices CHr, Ret-Y Hypo%). In macrocytic anemia, introduction of methods to measure methylmalonic acid (MMA), homocystein, holotranscobalamin (holo-TC), complement the determinations of vitamin concentrations (vitamin B12, folic acid in serum and erythrocytes). Employing these newer parameters in addition to the well established ones allows for detection of early or combined disease. The clinician has to know the diagnostic characteristics not only of the old but also of the newer parameters.
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PMID:[Conventional and new laboratory parameters in the evaluation of hematologic disease]. 1501 92

The aim of the study was to examine the clinical utility of the reticulocyte hemoglobin content (CHr) in relation to the mean cell volume of the erythrocyte (MCV) and ferritin for the differential diagnosis of iron-deficient anemia (IDA). In 96 anemic patients classified according to morphology of erythrocytes, CHr indicated a high statistical difference between the non-anemic control group and microcytic (p < 0.001) and normocytic (p < 0.001) anemic groups, but was limited in patients with macrocytic anemia, for which reason they were excluded from the study. In the inflammatory disorders, ferritin concentration may be normal or increase due to acute phase response, which provides false information on a patient's iron status, but CHr indicated a high statistical difference between the control group and the non-inflammatory (p < 0.001) and inflammatory groups (p < 0.001). Receiver operator characteristic curve analysis demonstrates that CHr has a better overall sensitivity and specificity than MCV and ferritin in the diagnosis of iron deficiency compared to hemoglobin concentration.
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PMID:Reticulocyte hemoglobin content in the diagnosis of iron deficiency anemia. 1533 May 12

Iron deficiency is a known complication of achlorhydria and may precede the development of pernicious anemia. Among 160 patients with autoimmune gastritis identified by hypergastrinemia and strongly positive antiparietal antibodies, we explored the overlap between 83 subjects presenting with iron deficiency anemia (IDA), 48 with normocytic indices, and 29 with macrocytic anemia. Compared with macrocytic patients, patients with IDA were 21 years younger (41 +/- 15 years versus 62 +/- 15 years) and mostly women. All groups had a high prevalence of thyroid disease (20%) and diabetes (8%) suggestive of the autoimmune polyendocrine syndrome. Stratification by age cohorts from younger than 20 years to older than 60 years showed a regular and progressive increase in mean corpuscular volume (MCV) from 68 +/- 9 to 95 +/- 16 fl, serum ferritin levels from 4 +/- 2 to 37 +/- 41 microg/L, gastrin level from 166 +/- 118 to 382 +/- 299 pM/L (349 +/- 247 to 800 +/- 627 pg/mL), and a decrease in cobalamin level from 392 +/- 179 to 108 +/- 65 pg/mL. The prevalence of Helicobacter pylori infection was 87.5% at age younger than 20 years, 47% at age 20 to 40 years, 37.5% at 41 to 60 years, and 12.5% at age older than 60 years. These findings challenge the common notion that pernicious anemia is a disease of the elderly and imply a disease starting many years before the establishment of clinical cobalamin deficiency, by an autoimmune process likely triggered by H pylori.
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PMID:Variable hematologic presentation of autoimmune gastritis: age-related progression from iron deficiency to cobalamin depletion. 1700 59

Iron deficiency and iron deficiency anemia are common conditions in children, especially in developing countries. It is often difficult for the pediatrician to know which indices should be used in the diagnosis of these conditions in children. Reticulocyte hemoglobin (Hb) content (CHr) has been shown to be an accurate indicator of anemia, however whether its use suits the situation in developing countries or not is unclear. The aim of this study was to evaluate the value and effectiveness of using CHr as a method to diagnose iron deficiency and iron deficiency anemia in Saudi children. The samples for the study were collected from 305 children suspected to have anemia. Complete blood count, transferrin saturation (Tfsat), ferritin, circulating transferrin receptor (TfR) and CHr were measured. Three groups were defined, iron deficiency (Tfsat <20%, Hb >11 g/dL; n=120), iron deficiency anemia (Tfsat <20%, Hb <11 g/dL; (n=73) and controls (Tfsat >20%; n=112). The anemic group had significantly lower macrocytic anemia (MCV), mean corpuscular hemoglobin (MCH) and CHr. All of the variables in the anemia group were significantly lower than those of the control group except for the ferritin level. Compared to the control group, the iron deficiency group also showed significantly lower values except for transferrin receptor and the ferritin levels. CHr levels of <26 pg correlated well with anemic states. CHr together with a complete blood count may provide an alternative to the traditional hematologic or biochemical panel for the diagnosis of iron deficiency and iron deficiency anemia in young children and is cost-effective in developing countries. A CHr cut-off level of 26 pg is considered to be a reasonable indicator of anemic states.
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PMID:Measurement of reticulocyte hemoglobin content to diagnose iron deficiency in Saudi children. 1652 Sep 41


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