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14 Possible Causes for Glycogen Storage Disease Type 1, Hyperbilirubinemia, Polychromasia in Peripheral Blood Smear

  • Autoimmune Hemolytic Anemia

    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] AIHAs can result in the classic set of symptoms associated with anemia (see page) as well as an unconjugated hyperbilirubinemia and in some cases jaundice if hemolysis is[pathwaymedicine.org] Red blood cell agglutination, polychromasia, target cells and spherocytes were seen on a peripheral smear.[jmedicalcasereports.com]

  • Glucose-6-Phosphate Dehydrogenase Deficiency

    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] […] and readmitted to hospital owing to hyperbilirubinemia over five years.[ncbi.nlm.nih.gov]

  • Pyruvate Kinase Deficiency

    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] We report an infant with neonatal hyperbilirubinemia due to pyruvate kinase deficiency.[ncbi.nlm.nih.gov]

  • Congenital Hemolytic Anemia

    Laboratory The review of the peripheral blood smear revealed no evidence of the schistocytes or fragmented red cells.[medcraveonline.com] Long-term phenobarbital treatment (2 mg/kg body weight/day) permanently reduced hyperbilirubinemia in a patient with congenital non-spherocytic hemolytic anemia due to erythrocyte[ncbi.nlm.nih.gov] blood smear of Congenital Hemolytic Anemia Describe the extent of central pallor of a normal RBC T/F: There is increased reticulocytosis and polychromasia in Congenital Hemolytic[brainscape.com]

  • Zieve's Syndrome

    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] The peripheral blood smear revealed polychromasia and nucleated erythrocytes. The parents’ blood counts and smears were normal.[indianpediatrics.net] In general, Zieve's syndrome must be considered as a possible pathology, when a patient with a history presents with indirect hyperbilirubinemia, a medical history of alcoholism[symptoma.com]

  • Normocytic Normochromic Anemia

    Peripheral blood smear shows: Microcytosis and hypochromasia. There is anisocytosis, poikilocytosis. There are pencil cells (elliptical RBCs).[labpedia.net] Kernicterus is caused by unconjugated hyperbilirubinemia that develops either as a result of hemolytic disease (Rh incompatibility, hereditary spherocytosis, other hemolytic[quizlet.com] […] when destruction increases to 6 to 8 fold normal because the ... can increase production by the same capacity Hemolytic Anemia: Hemolysis -If reticulocytosis and indirect hyperbilirubinemia[cram.com]

  • Paroxysmal Cold Hemoglobinuria

    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] Temporary hepatosplenomegaly and mild hyperbilirubinemia may follow the onset of an attack. paroxysmal cold hemoglobinuria Hematology A disorder that is: (1) Rarely 'paroxysmal[medical-dictionary.thefreedictionary.com]

  • Neonatal Isoimmune Neutropenia

    storage disease type 1b G6PT1 AR Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly X-linked neutropenia WAS XL Neutropenia, monocytopenia, myeloid maturation[arupconsult.com] The reticulocyte count, or presence of polychromasia on the peripheral blood smear, can help assess bone marrow response to anemia. As Dr.[captodayonline.com] New to this edition are an expanded coverage of neonatal oncology, cord blood utilization, neonatal screening, prenatal diagnosis and hyperbilirubinemia.[books.google.it]

  • Hemolytic Anemia due to a Disorder of Glycolytic Enzymes

    "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] Infants with Gilbert’s disease and G-6-PD deficiency are particularly susceptible to hyperbilirubinemia.[clinicaladvisor.com]

  • Erythropoietic Porphyria

    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] A peripheral blood smear showed poikilocytosis, polychromasia, tear-drop cells, and normoblasts.[bloodjournal.org] […] specific mutation (K404E) or compound heterozygous with a null allele in CPOX have a more severe erythropoietic porphyria, harderoporphyria, characterized by neonatal jaundice, hyperbilirubinemia[house.wikia.com]

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