• Chromosome
  • The numbered bands specify the location of the thousands of genes that are present on each chromosome. (rarediseases.org)
  • PGM3 is a 29 kb gene with 14 exons, mapping to chromosome 6q14.1-q14.2 and encoding a 542 amino acid protein that serves as the crucial catalyst for the glycosylation pathway Protein PGM3 is required for the reversible conversion of GlcNAc-6-phosphate (GlnNAc-6-P) to GlnNAc-a-phosphate (GlcNac-1-P), a precursor step for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc). (wikipedia.org)
  • In 2010, Hill et al analyzed the sex-determining region Y gene (SRY) and the Y chromosome short tandem repeat "DYS14" in cffDNA from 511 pregnancies using a quantitative real-time PCR (RT-qPCR). (wikipedia.org)
  • abnormalities
  • Consistent with historical literature, following sufficient exposure to relatively high airborne concentrations and years of exposure, the SHS concluded that exposure to benzene resulted in an increased risk of various blood and bone marrow abnormalities such as benzene poisoning, aplastic anemia (AA), myelodysplastic syndrome (MDS), and acute myeloid leukemia (AML). (readbyqxmd.com)
  • Because glycosylation is known to be critical for numerous immune-related proteins, these patients likely present with additional abnormalities including neutropenia, hemolytic anemia, hepatosplenomegaly, and neutropenia. (wikipedia.org)
  • idiopathic
  • Most cases of immune-mediated hemolytic anemia are idiopathic - the reason for the development of the antibodies development in that particular dog is unknown. (wiki-pet.com)
  • Treatment of idiopathic immune-mediated hemolytic anemia is directed toward preventing further red cell destruction by blocking the antigen-antibody reaction using corticosteroids and immunosuppressants. (wiki-pet.com)
  • PKLR
  • M1 and M2 isozymes are regulated by the gene PKM and R and L isozymes are regulated by the gene PKLR. (wikipedia.org)
  • There are four pyruvate kinase isoenzymes, two of which are encoded by the PKLR gene (isoenzymes L and R, which are used in the liver and erythrocytes, respectively). (wikipedia.org)
  • oxidative
  • The mutated gene results in proteins not being degraded and oxidative proteins building up in cellular tissues, eventually leading to apoptosis, especially in muscle and fat cells. (wikipedia.org)
  • abnormal
  • Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by an abnormal sensitivity of red blood cells to heat and erythrocyte morphology similar to that seen in thermal burns. (wikipedia.org)
  • When the red blood cells (erythrocytes) of a newborn contain irregularly shaped bits of abnormal hemoglobin (Heinz bodies), a diagnosis of nonspherocytic hemolytic anemia can be made. (rarediseases.org)
  • All individuals carry a few abnormal genes. (rarediseases.org)
  • The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. (rarediseases.org)
  • Typically, both parents of an affected child carry one abnormal gene and are unaffected by the disease. (wikipedia.org)
  • When both parents have one abnormal copy of the PGM3 gene, each child has a 25 percent chance of being affected by the disease. (wikipedia.org)
  • Causes
  • Anemia develops when either blood loss, a slow-down in the production of new RBCs (erythropoiesis), or an increase in red cell destruction (hemolysis) causes significant reductions in RBCs, Hgb, iron levels, and the essential delivery of oxygen to body tissues. (encyclopedia.com)
  • encodes
  • This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. (genecards.org)
  • This gene encodes a serine proteinase that is essential for regulating the complement cascade. (genecards.org)
  • This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. (wikipedia.org)
  • Disease
  • A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.Visit the Orphanet disease page for more resources. (malacards.org)
  • An important gene associated with Glycogen Storage Disease Xii is ALDOA (Aldolase, Fructose-Bisphosphate A), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Pentose phosphate pathway . (malacards.org)
  • Despite the fact that little is known about the cellular role of Dock8 its importance has been highlighted in several studies which have identified disruption of the DOCK8 gene in disease. (wikipedia.org)
  • RefSeq
  • provided by RefSeq, Mar The NT5C3 gene consists of 10 exons and can be alternatively spliced at exon 2. (wikipedia.org)
  • Hexokinase
  • HK1 (Hexokinase 1) is a Protein Coding gene. (genecards.org)
  • Genes that encode hexokinase have been discovered in every domain of life, and exist among a variety of species that range from bacteria, yeast, and plants to humans and other vertebrates. (wikipedia.org)
  • form
  • As a result, gene expression can be regulated by converting the highly active tetrameric form of PKM2, which yields high PEP concentrations, into an inactive dimeric form, which yields a PEP concentration of nearly zero. (wikipedia.org)
  • spleen
  • Splenectomy (the removal of the spleen) may be beneficial, but only when tests prove that the spleen is contributing to the hemolytic process. (wiki-pet.com)