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27 Possible Causes for Congenital Nonspherocytic Hemolytic Anemia, Erythrocytes Decreased, Kernicterus

  • Hereditary Spherocytosis

    Defects in these proteins lead to a loss in RBC membrane cohesion and membrane surface area, resulting in erythrocyte sphering, decreased deformability and premature destruction[orpha.net] Among neonates listed in the USA Kernicterus Registry, HS was the third most common underlying hemolytic condition after glucose-6-phosphate dehydrogenase deficiency and ABO[ncbi.nlm.nih.gov] […] beginning of congenital hemolysis may be essential for managing neonatal anemia and hemolytic icterus, identifying those at high risk for severe hyperbilirubinemia, irreversible kernicterus[ncbi.nlm.nih.gov]

  • Pyruvate Kinase Deficiency

    decreased erythrocyte pyruvate kinase (PK) activity.[ncbi.nlm.nih.gov] Such cases should be recognized early and managed aggressively to prevent kernicterus.[ncbi.nlm.nih.gov] In this later group of "congenital nonspherocytic hemolytic anemias" splenectomy has often been performed but usually does not produce a clinical cure.[nejm.org]

  • Glycogen Storage Disease Type 1

    Phk activity in erythrocytes was markedly decreased (12% residual activity) while the parents' erythrocyte Phk activities were in the heterozygote range (mother: 56%; father[academic.oup.com] Chronic hepatitis Albuminuria Distal renal tubular acidosis Hepatocellular adenoma Hypocitraturia Cataract Hyperreflexia Gait disturbance Full cheeks Carcinoma Elevated erythrocyte[mendelian.co] […] hypoplastic anemia Hyperkalemia Inflammation of the large intestine Intestinal obstruction Episodic fever Amyloidosis Antinuclear antibody positivity Acute hepatic failure Decreased[mendelian.co]

  • Congenital Hemolytic Anemia

    Phosphatidylserine internalization in erythrocytes with the mutant ATP11C was decreased 10-fold compared to that of the control, functionally establishing that ATP11C is a[ncbi.nlm.nih.gov] In patients with kernicterus sometimes exchange transfusion is advised. In some patients with anemia and jaundice splenomegaly is noted.[medcraveonline.com] This group is sometimes called congenital nonspherocytic (hemolytic) anemia, which is a term for a congenital hemolytic anemia without spherocytosis, and usually excluding[en.wikipedia.org]

  • Fetal Erythroblastosis

    […] to “possible kernicterus”.[doi.org] The phenotype of severe nonspherocytic hemolytic anemia, jaundice, hepatosplenomegaly, and marked erythroblastosis is more severe than that present in congenital dyserythropoietic[readbyqxmd.com] Immaturity in a live born baby with erythroblastosis fetalis carries an increased risk of unfavorable outcome, particularly with respect to kernicterus.[pediatrics.aappublications.org]

  • Toxic Hemolytic Anemia

    […] and the inability of bone marrow to compensate for the decreased life span.[diagnose-me.com] Patients develop jaundice and the chief threat to life in young infants is kernicterus that carries a high mortality.[flipper.diff.org] 壊血病 scorbutus 核黄疸 Kernikterus (独), kernicterus, nuclear jaundice 家族性アミロイドーシス familial amyloidosis 家族性アミロイドポリニューロパチー familial amyloidotic polyneuropathy 家族性LCAT欠損症 familial[jsge.or.jp]

  • Acquired Toxic Hemolytic Anemia

    Premature destruction of red cells occurs through two primary mechanisms: (1) decreased erythrocyte deformability that leads to red-cell sequestration and extravascular haemolysis[oxfordmedicine.com] Acute kernicterus in a neonate with O/B blood group incompatibility and a mutation in SLC4A1. Pediatrics. 2013; 132(2): e531-4.[arupconsult.com] Congenital Nonspherocytic Hemolytic Anemia includes any of a group of inherited anemias characterized by shortened red cell survival, lack of spherocytosis, and normal osmotic[diagnose-me.com]

  • Glucose-6-Phosphate Dehydrogenase Deficiency

    If t he fluidity of the cell interior or the surplus of cell surface is reduced, the “conformation instability” of the erythrocyte will decrease.[content.iospress.com] KEYWORDS: Activator; Bilirubin; Chaperone; G6PD deficiency; Hyperbilirubinemia; Jaundice; Kernicterus; Neurotoxicity[ncbi.nlm.nih.gov] .: Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: A new variant (type Nordhorn). II.[link.springer.com]

  • Anemia due to Glutathione Metabolism Disorder

    Addition of copper to normal erythrocytes led to increased autohemolysis, thermolability of hemoglobin, increased sensitivity to acetylphenylhydrazine, decreased erythrocyte[annals.org] Exchange transfusion in the first week of life is required to prevent kernicterus.[medcaretips.com] D58.9 ICD-10-CM Diagnosis Code D58.9 Hereditary hemolytic anemia, unspecified 2016 2017 2018 2019 Billable/Specific Code nonspherocytic congenital or hereditary NEC D55.8[icd10data.com]

  • Hemolytic Anemia due to a Disorder of Glycolytic Enzymes

    Defective PK catalysis in affected erythrocytes generally results in elevated concentrations of 2,3-diphosphoglycerate (2,3-DPG) and decreased ATP levels relative to cells[ommbid.mhmedical.com] […] cells ( anemia ) Swelling of the spleen ( splenomegaly ) Yellow color of the skin, mucous membranes, or white part of the eyes ( jaundice ) Neurologic condition, called kernicterus[medlineplus.gov] Summary Epidemiology PK deficiency is the most frequent cause of congenital nonspherocytic hemolytic anemia with a prevalence estimated at 1/20,000 in the general white population[orpha.net]

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