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15 Possible Causes for Congenital Nonspherocytic Hemolytic Anemia, Erythrocytes Decreased, Uric Acid Increased

  • 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] Stability studies with blood from HS patients showed a significant decrease in hyperchromic erythrocytes after 6 h storage.[ncbi.nlm.nih.gov] […] encode the red blood cell (RBC) membrane proteins erythrocytic 1 spectrin alpha chain, erythrocytic 1 spectrin beta chain, ankyrin-1, band 3 anion transport protein, and erythrocyte[orpha.net]

  • Autoimmune Hemolytic Anemia

    Mechanisms of actions include suppression of autoantibody production, reduction in autoantibody affinity, and decreased destruction of erythrocytes by splenic macrophages,[doi.org] In patients with Evans syndrome, the mechanism of destruction of erythrocytes is thought to be similar to AIHA.[cancertherapyadvisor.com] Premature destruction of erythrocytes occurs intravascularly or extravascularly. The etiologies of hemolysis often are categorized as acquired or hereditary.[aafp.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] Add Allopurinol to reduce uric acid levels which occurs because of the decrease in renal clearance and the increased production of uric acid as glycogen is not broken down[en.wikibooks.org] Chronic hepatitis Albuminuria Distal renal tubular acidosis Hepatocellular adenoma Hypocitraturia Cataract Hyperreflexia Gait disturbance Full cheeks Carcinoma Elevated erythrocyte[mendelian.co]

  • Refractory Megaloblastic Anemia

    […] degree of in effective erythropoiesis · Haptoglobins, Uric acid and alkaline phosphatase levels – Decreased. · Serum methylmalonate and homocystein levels - Vitamin B-12[sites.google.com] Lack of CTP, TMP, and UTP leads to a decreased nucleic acid synthesis and decreased erythrocyte formation resulting in Megaloblastic anemia.[usmle.biochemistryformedics.com] nonspherocytic hemolytic anemia * (n) 先天性貧血 P614 ** せんてんせいひんけつ PubMed, Scholar, Google, WikiPedia congenital anemia * (n*) 先天性溶血性貧血 *** せんてんせいようけつせいひんけつ シソーラス PubMed, Scholar[lsd-project.jp]

  • 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] 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] However, inosine, which is a naturally occurring substance, increases plasma uric acid levels ( 38 ).[nature.com]

  • Hexokinase Deficiency

    Glucose consumption of the hexokinase-deficient cells was not appreciably decreased, probably because less of the potent inhibitor glucose-6-phosphate was present in the erythrocytes[ncbi.nlm.nih.gov] The findings were entirely different from those of subsequently reported cases with congenital, nonspherocytic hemolytic anemia associated only with a specific deficiency[jamanetwork.com] Uric Acid), and the patient presents Hyperuricemia.[biochemistryquestions.wordpress.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] .: Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: A new variant (type Nordhorn). II.[link.springer.com] An acid urine pH favors production of poorly soluble uric acid over the more soluble urate, increasing the risk for precipitation of intratubular uric acid crystals.[doi.org]

  • Hemoglobin Yakima

    […] dissociation curve donor equilibrium erythrocytes exchange transfusion fetal blood Figure filter freezing frozen blood frozen red cells frozen storage function glucose glycerol[books.google.de] nonspherocytic hemolytic anemia.[medicine.academic.ru] Renal profile (kidney function tests), blood sugar, electrolytes, serum iron, serum uric acid and lipid profile were normal.[sjmms.net]

  • Glycogen Storage Disease due to Phosphoglycerate Kinase 1 Deficiency

    Biochemical analysis shows decreased PGK enzyme activity in muscle, erythrocytes [ 35 - 37 ], white cells and platelets [ 35 ].[ojrd.biomedcentral.com] , Hemolytic, Congenital Nonspherocytic Genetic Diseases, X-Linked Kidney Diseases Glycogen Storage Disease Type VII Multiple Acyl Coenzyme A Dehydrogenase Deficiency Genetic[clinicaltrials.gov] acid Cori's disease lab data Cori's disease clinical sever hypoglycemia, ketosis, hepato(nephro)megaly increased # of short outer branches of glycogen Cori's disease Amylo[quia.com]

  • Lymphopenic Agammaglobulinemia - Short-Limbed Dwarfism Syndrome

    It involves decreased complement in the serum and antibodies developed to double stranded DNA, and sometimes T lymphocytes.[web2.uwindsor.ca] Microcytic, with Iron Overload 2; AHMIO2 OMIM:206300 Anemia, Nonspherocytic Hemolytic, Associated with Abnormality of Red Cell Membrane OMIM:300908 Anemia, Nonspherocytic[informatics.jax.org] PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY  PNP degrades Purines to Hypoxanthine and finally to uric acidIncreased dGTP levels  Hypoplastic anemia  Recurrent Pneumonia[slideshare.net]

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