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10 Possible Causes for Glycogen Storage Disease Type 1, Normocytic Normochromic Anemia, Polychromasia in Peripheral Blood Smear

  • Autoimmune Hemolytic Anemia

    Signs and Symptoms Pallor Jaundice Lethargy Abdominal pain Low-grade fever Dark urine (sever hemolysis) Hepatosplenomegaly Diagnostic tests CBC with smear Normocytic, normochromic[pedclerk.bsd.uchicago.edu] Peripheral blood smear showed polychromasia and spherocytosis. Haptoglobin level was 0.06 g/L ( N 0.16-2). Both hemoglobin electrophoresis and G6PD level were normal.[jahjournal.org] -Red cell morphology on review of the peripheral blood smear may demonstrate microspherocytes and polychromasia which are suggestive of a reactive reticulocytosis.[oncologynurseadvisor.com]

  • Chronic Acquired Pure Red Cell Aplasia

    […] for any underlying condition known to be associated with PRCA is also necessary Laboratory Profound normocytic, normochromic anemia with reticulocytopenia and without polychromasia[pathologyoutlines.com] storage disease グリコーゲン蓄積症,糖原病(0a型) glycogen storage disease (type 0a) グリコーゲン蓄積症,糖原病(0b型) glycogen storage disease (type 0b) グリコーゲン蓄積症,糖原病(I型) glycogen storage disease (type[jsge.or.jp] blood smear showed anisocytosis, poikilocytosis, polychromasia and leukocytosis.[ijmstrust.in]

  • Pyruvate Kinase Deficiency

    In most cases, the morphological RBC characteristics are unremarkable and are normocytic/normochromic.[clinicaladvisor.com] In PFK deficiency (glycogen storage disease type VII), clinical hallmarks are male predominance with early onset gout, compensated hemolytic process, and prominent myopathy[ommbid.mhmedical.com] Peripheral blood smear showed polychromasia, anisocytosis, tear drop cells, fragmented eyrtrocytes, and target cells.[ncbi.nlm.nih.gov]

  • Anemia due to Glutathione Metabolism Disorder

    Hemolysis results in anemia, which is usually normocytic and normochromic. Hemolysis is mostly intravascular.[pathophys.org] […] deficiency GK Glycogen storage disease of heart (lethal) PRKAG2 Glycogen storage disease type 0 muscle GYS1 Glycogen storage disease type 0 GYS2 Glycogen storage disease[centogene.com] The peripheral blood smear post-splenectomy often shows crenated or spiculated spherocytes and marked polychromasia.[clinicaladvisor.com]

  • Paroxysmal Cold Hemoglobinuria

    Blood analysis will reveal anemia of varying severity that is expected to be normocytic and normochromic or even macrocytic.[symptoma.com] storage disease グリコーゲン蓄積症,糖原病(0a型) glycogen storage disease (type 0a) グリコーゲン蓄積症,糖原病(0b型) glycogen storage disease (type 0b) グリコーゲン蓄積症,糖原病(I型) glycogen storage disease (type[jsge.or.jp] Tests include complete blood count (CBC) and peripheral smear.[emedicine.com]

  • Hemolytic Anemia due to a Disorder of Glycolytic Enzymes

    Enzymopathies are commonly associated with normocytic normochromic hemolytic anemia.[unboundmedicine.com] "Glycogen storage disease type I: diagnosis, management, clinical course and outcome.Results of the European study on glycogen storage disease type I".[cancertherapyadvisor.com] blood smear : spherocytes, polychromasia Coombs test : positive Cold agglutinins titer C3 and C4 ; (due to complement activation) Prognosis: spontaneous remission within[amboss.com]

  • Neonatal Isoimmune Neutropenia

    Her anemia was normocytic and normochromic with a high reticulocyte count, requiring blood transfusion.[ci.nii.ac.jp] Glycogen storage disease type 1 Glycogen storage disease2 type 1, also known as von Gierke disease, is caused by a deficiency in microsomal glucose-6-phosphatase3 activity[slideshare.net] The reticulocyte count, or presence of polychromasia on the peripheral blood smear, can help assess bone marrow response to anemia. As Dr.[captodayonline.com]

  • Glucose-6-Phosphate Dehydrogenase Deficiency

    There was normocytic normochromic anemia with reticulocytosis and Heinz bodies in pre-transfusion complete blood picture in all studied cases.[ncbi.nlm.nih.gov] In PFK deficiency (glycogen storage disease type VII), clinical hallmarks are male predominance with early onset gout, compensated hemolytic process, and prominent myopathy[ommbid.mhmedical.com] The peripheral blood smear showed polychromasia, anisopoikilocytosis and reticulocytosis (the reticulocyte count was 14.6%). Urine was positive for hemoglobinuria.[ncbi.nlm.nih.gov]

  • Congenital Dyserythropoietic Anemia Type 2

    Fig. 1 Peripheral blood smear showed normochromic, normocytic anemia with increased polychromasia and anisopoikilocytosis including occasional teardrop forms.[link.springer.com] […] other diseases, including congenital megacolon, congenital dyserythropoietic anemia type II, Diamond-Blackfan anemia, Grover disease (transient acantholytic dermatosis), and glycogen-storage[mdedge.com] The Hb may be normal initially and anemia (normochromic, normocytic) develops during the first 24 hours.[oncologynurseadvisor.com]

  • Overhydrated Hereditary Stomatocytosis

    , Fanconi anemia , Sideroblastic anemia Blood tests Normocytic - Microcytic - Macrocytic - Normochromic - Hypochromic Other Methemoglobinemia Coagulation / platelets / coagulopathy[wikidoc.org] Glycogen storage disease due to phosphoglycerate mutase deficiency Glycogen storage disease type 0a Glycogen storage disease type 0b Glycogen storage disease type 11 Glycogen[csbg.cnb.csic.es] Peripheral blood smear examination showed reduced red cell density with polychromasia.[mjdrdypu.org]

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