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)

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

Various haematological parameters were followed in a group of 47 Kenyan patients with visceral leishmaniasis during treatment and follow up. The WBC and platelet numbers were normal by the time of cure, the Hb level took longer to become normal. Red cells were microcytic and hypochromic. MCV and MCH increased during follow up but microcytosis persisted up to a year after cure. Low serum iron and transferrin concentration, low total iron binding capacity and normal to high serum ferritin levels were found in 10 patients and are consistent with 'anaemia of chronic inflammation'. Bone marrows of 15 patients before treatment were normo- to hypercellular with increased erythropoietic activity. Low haemosiderin content of the bone marrow was consistent with iron deficiency, but normalization of Hb without iron suppletion would argue against a major role of iron deficiency. Coagulation studies did not indicate diffuse intravascular coagulation. Splenomegaly seems the most important factor in the causation of the pancytopenia. Further studies of contributing factors and of the cause and mechanism of 'hypersplenism' are needed.
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PMID:Haematological investigations in visceral leishmaniasis. 381 Aug 41

Partial dearterialization of the spleen is a surgical method aimed at reducing the volume of the spleen whilst preserving its defensive properties against bacterial infections. Four children with thalassaemia major and one with congenital dyserythropoiesis who developed hypersplenism in the course of their disease underwent the operation and were subsequently followed up for periods of 24 to 36 months. The effectiveness of the method was demonstrated by a smaller enlargement of the spleen, a lesser need for transfusions, a longer life of 51 Cr-labelled red cells and more numerous circulating platelets. Surgery was also effective in reducing post-transfusional iron overload, as shown by the decrease and stability of serum ferritin levels in all children subjected to iron chelation. No episode of infection or changes in serum IgM occurred during the follow-up period, and radioisotopic studies of the spleen showed that macrophage function was preserved in the remaining splenic tissue. One child inexplicably developed thrombosis of the splenic vein 1 year after surgery.
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PMID:[Hypersplenism in thalassemia major. Treatment by partial dearterialization of the spleen. Preliminary results apropos of 5 cases]. 623 27

In a prospective trial with 120 chronic alcoholics (July, 1978 to January, 1980) on admission the following haematological values significantly different from those of the normal population were found: elevated erythrocyte mean corpuscular volume (64%), increased mean corpuscular hemoglobin (32%), thrombocytopenia (48%), increased percentage of bone marrow sideroblasts (35%), decreased percentage of sideroblasts (37%), megaloblastic bone marrow changes (55%) including nuclear abnormalities (32%), and vacuolization in red cell (20%) and white cell (16%) precursors. These changes were independent of liver cirrhosis with hypersplenism (increased mean corpuscular volume in 52% of the patients who did not have liver cirrhosis, increased mean corpuscular volume in 76% of the patients who were cirrhotic but not suffering from major bleeding). Platelets returned to normal values within 6 days of discontinuation of alcohol ingestion. In respect to iron metabolism we found the following changes: decreased serum iron concentration (32%), increased iron concentration (42%), increased total iron binding capacity (54%), increased ferritin (41%), decreased transferrin (20%). In contrast to data from the Anglo-American literature, serum folate concentrations were mostly normal in our patients (87%). This may be due to different eating and drinking habits. The percentage of bone marrow sideroblasts was also lower in our patients than those described in the literature mentioned above. The changes in maturation are likely to be caused partially by a toxic effect of alcohol on nuclear metabolism of bone marrow cells.
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PMID:[Alcohol induced changes in hemopoiesis (author's transl)]. 731 98

The haematological manifestations were reviewed in 94 patients (55 males and 39 females) with visceral leishmaniasis. Their ages ranged from 4 months to 12 years (mean per cent 1.8 years). All patients had splenomegaly and were anaemic, while (73 per cent) were neutropenic and (56 per cent) thrombocytopenic. Coagulation abnormalities were encountered in 10 (11 per cent) patients; in four patients this was associated with disseminated intravascular coagulopathy. Bone marrow was hypercellular in (90 per cent), normocellular in (5 per cent), and hypocelluar in (4 per cent). Also variable degrees of erythrophagocytosis and leukophagocytosis were noted with preponderance of histiocytes (46 per cent) and granulomatous formation (25 per cent). Low haemosiderin content in the bone marrow was noted, which together with the finding of high serum ferritin is consistent with anaemia of chronic inflammation. Hypersplenism, haemophagocytosis and granulomatous lesions of the bone marrow, chronic inflammation, and dietary factors appear to be the most important factors in the causation of the haematological changes in visceral leishmaniasis.
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PMID:The haematological manifestations of visceral leishmaniasis in infancy and childhood. 763 32

Anemia is a frequent complication in cancer, occurring in more than 50% of patients with malignancies. Several factors can cause anemia in these patients, such as blood loss, hemolysis, bone marrow infiltration, hypersplenism, and nutrient deficiencies. However, in a considerable number of patients, no cause other than malignant disease itself can be implicated. This cancer-related anemia is similar to the anemia observed in other chronic diseases, such as rheumatoid arthritis and some chronic infections. The syndrome of anemia of chronic disease is characterized by a hyporegenerative, normocytic, normochromic anemia associated with reduced serum iron and transferrin saturation but elevated (or normal) ferritin levels. Cancer-related anemia results from activation of the immune and inflammatory systems, leading to increased release of tumor necrosis factor, interferon-gamma, and interleukin-1. The cytokine-mediated relative failure of erythropoiesis has been further investigated, and three different mechanisms of action are proposed: (1) impaired iron utilization; (2) suppression of erythroid progenitor cells differentiation; and (3) inadequate erythropoietin production. In addition, the life span of red blood cells is shortened in cancer-related anemia and production cannot compensate sufficiently for the shorter survival time. Administration of recombinant human erythropoietin (r-HuEPO, epoetin alfa) can not only correct inadequate endogenous erythropoietin production, but also can overcome the suppression of erythroid progenitor cells and impairment of iron mobilization.
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PMID:Biological basis of anemia. 1139 45

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

Thrombocytopenia is a frequent hematological complication in patients with liver cirrhosis, but its pathogenesis is not clearly understood. We evaluated the effect of iron depletion by phlebotomy on platelet count in 62 consecutive iron overloaded patients with liver cirrhosis and thrombocytopenia. After a median follow-up of 30.2 months we observed a significant increase of platelet count in all patients (from mean baseline levels of 110.1 up to 168.22109/l at the end of follow-up, P<0.001) with platelet count normalization in 42 of them (67.7%). In addition, we observed a significant improvement of serum ALT levels (from pretreatment mean values of 126.7 up to 59.7 U/l at the end of follow-up, P<0.001) along with the reduction of serum ferritin levels and transferrin saturation during phlebotomy. Different pathogenetic mechanisms involving both humoral (erythropoietin and thrombopoietin, TPO) and physical (portal hypertension and hypersplenism) factors are here discussed to explain the platelet count increase following phlebotomy. Our results show that phlebotomy is effective not only in lowering iron overload, but also in improving liver function and thrombocytopenia in patients with liver cirrhosis.
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PMID:Platelet count increase following phlebotomy in iron overloaded patients with liver cirrhosis. 1291 44

Anemia is a common finding in patients with CKD, with a prevalence that increases gradually as eGFR declines. The prevalence of renal anemia depends on the size of the study and the selection of participants. Diabetic status increases the prevalence of anemia in patients with CKD. Anemia in CKD is due primarily to reduced production of erythropoietin in the kidney and secondarily to shortened red cell survival. Erythropoeitin (EPO) is produced by peritubular cells in the kidneys of the adult and in hepatocytes in the fetus. These cells are sensitive to hypoxia that once sensed leads to an increase in EPO production. EPO circulates in the plasma and induces redcell production in the bone marrow after successful binding to erythroid progenitor cells. Apart from EPO, folate, B(12) and iron are needed to assure effective erythropoiesis. Factors that can dysregulate this process include inflammation, uremic toxins, hypothyroidism, hypersplenism and ongoing infection.The investigation of renal anemia requires the assessment of a variety of biological indices. Among them, the complete blood count, the reticulocyte index, B(12), folate, ferritin levels and the saturation of transferrin are the most valuable tools in revealing the cause of renal anemia.
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PMID:Renal anemia: a nephrologist's view. 2189 57

Research objective is to study the efficacy of recombinant erythropoietin (epoetin alfa) as alternative method of treatment beta-thalassemia intermedia. Study involved 58 patients with beta-thalassemia intermedia (23 women and 35 men). In all observed patients was defined levels of hemoglobin (Hb), red blood cells (RBC), erythrocyte indexes (MCV, MCH, MCHC), hemoglobin fractions (HbA, HbA2, HbF), serum ferritin, serum erythropoietin before and after administrated rEPO. All patients received rEPO during 6 month at the dose - 10000 IU subcutaneously. The majority of patients - 39 (67%) had a good response to rEPO (increase in hemoglobin level more than 20 g/l); 16 patients (28%) had a mean response (increase in Hb 10 - 20 g/l); in 3 (5%) patients occurred poor response to rEPO therapy (increase in Hb <10 g/l). After rEPO treatment of beta-thalassemia intermedia patients there was a statistically significant change in the number of RBC, levels of HbF and sEPO. The evaluation of interdependence between the indices of the baseline sEPO and increased Hb values in patients after rEPO treatment revealed the presence of the reverse direct relationship (r=-0.67). Based on the results, it can be concluded that the use of rEPO in complex therapy of beta-thalassemia intermedia leads to increased levels of Hb and consequently reducing the need for blood transfusions, and accordingly expected to prevent severe complications of blood transfusion (alloimmunization, hypersplenism, iron overload, contamination transmissible infections) facilitating normal growth and development, and a better quality of life.
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PMID:CLINICAL APPLICATION OF RECOMBINANT ERYTHROPOIETIN IN BETA-THALASSAEMIA INTERMEDIA. 2744 42


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