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)

Anemia can result from deficient erythropoiesis [aplastic anemia, myelodysplastic syndromes (MDS), iron deficiency anemia, anemia of chronic disease (ACD), thalassemia, megaloblastic anemia, chronic renal failure, hematological malignancies, etc.], excessive RBC destruction [hereditary spherocytosis, inherited enzyme deficiency, hemoglobinopathies, autoimmune hemolytic anemia (AIHA), paroxysmal nocturnal hemoglobinuria (PNH), etc.], and blood loss. Based on the measured red cell size(MCV), anemia is classified as microcytic, normocytic, or macrocytic. Iron parameters (serum iron, serum ferritin, etc.), reticulocyte count, bone marrow examination, Coombs test, serum vitamin B12 level, and Ham test are also useful in the differential diagnosis of anemia. Novel treatment of anemia includes lenalidomide for 5q(-)MDS, azacitidine for high-risk MDS, and eculizumab for PNH. Oral iron chelator(deferasirox) developed for the treatment of transfusional iron overload is also very useful for the management of patients with bone marrow failure syndromes.
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PMID:[Pathophysiology, diagnosis and treatment of anemia]. 1832 12

Gaucher disease (GD) is an inherited enzyme deficiency characterised by progressive cytopenias, hepatosplenomegaly and destructive bone disease. It is diagnosed by demonstration of beta glucosidase deficiency but may be suspected in presence of abnormal storage cells on tissue biopsy. Specific treatment is available in the form of enzyme replacement (ERT) and is effective in reversing many disease features. Delayed treatment has been associated with increased disease complications. This retrospective review of a single centre cohort of 86 patients was undertaken to ascertain if the diagnostic journey had improved since the introduction of ERT and commissioning of services. Fifty-six percent of patients presented primarily with features related to thrombocytopenia or splenomegaly with a median time from symptom onset to diagnosis of 2years (range 0.5-26years), 19% experiencing delays of 5 or more years. Seventy-five percent of patients were diagnosed by haematologists, 68% following an abnormal bone marrow biopsy. Raised serum ACE levels, low HDL cholesterol and raised ferritin were identified as prevalent laboratory abnormalities at the time of diagnosis. These features, coupled with the relative preservation of haemoglobin and white cell counts compared to the platelet count, help identify patients presenting to haematologists with a possible diagnosis of GD earlier in the diagnostic pathway.
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PMID:Diagnosing Gaucher disease: an on-going need for increased awareness amongst haematologists. 2321 28