• Hereditary hemolytic anemias are a group of disorders with a variety of causes, including red cell membrane defects, red blood cell enzyme disorders, congenital dyserythropoietic anemias, thalassemia syndromes and hemoglobinopathies. (haematologica.org)
  • As no randomized clinical trials, case control or cohort studies regarding splenectomy in these disorders were found in the literature, recommendations for each disease were based on expert opinion and were subsequently critically revised and modified by the Splenectomy in Rare Anemias Study Group, which includes hematologists caring for both adults and children. (haematologica.org)
  • Glucose-6-phosphate isomerase (GPI) deficiency (MIM 613470), one of hereditary nonspherocytic hemolytic anemias (HNSHA), is a rare autosomal recessive hereditary disease caused by homozygous or compound heterozygous mutations of GPI gene on chromosome 19q13 [ 1 ]. (biomedcentral.com)
  • any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. (icdlist.com)
  • The causes of anemia may be classified as impaired red blood cell (RBC) production or increased RBC destruction (hemolytic anemias). (ghcgenetics.com)
  • Hereditary spherocytosis and hereditary elliptocytosis are examples of inherited hemolytic anemias. (ghcgenetics.com)
  • Altogether, ATP11C deficiency is the likely cause of hemolytic anemia in our patient, thereby underlining the physiological role and relevance of this flippase in human RBCs. (bvsalud.org)
  • Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive disorder that causes hereditary nonspherocytic hemolytic anemia (HNSHA). (biomedcentral.com)
  • Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al. (nih.gov)
  • Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. (nih.gov)
  • Congenital pernicious anemia (PA), or intrinsic factor deficiency, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia (170900). (nih.gov)
  • Hereditary spherocytosis is the most common congenital hemolytic anemia among Caucasians with an estimated prevalence ranging from 1:2,000 to 1:5,000. (ghcgenetics.com)
  • This group is sometimes called congenital nonspherocytic (hemolytic) anemia , which is a term for a congenital hemolytic anemia without spherocytosis, and usually excluding hemoglobin abdormalities as well, but rather encompassing defects of glycolysis in the erythrocyte. (en-academic.com)
  • hemolytic anemia that is present from birth and in which the lifespan of red blood cells is diminished, such as occurs in hereditary spherocytosis. (en-academic.com)
  • Congenital hemolytic jaundice - Known also as hereditary spherocytosis (HS), this is a genetic disorder of the red blood cell membrane clinically characterized by anemia, jaundice (yellowing) and splenomegaly (enlargement of the spleen). (en-academic.com)
  • McLeod neuroacanthocytosis syndrome (designated as MLS throughout this review) is a multisystem disorder with central nervous system (CNS), neuromuscular, cardiovascular, and hematologic manifestations in males: CNS manifestations are a neurodegenerative basal ganglia disease including movement disorders, cognitive alterations, and psychiatric symptoms. (nih.gov)
  • The thalassemias, sickle cell disease, and other hemoglobinopathies represent a major group of inherited disorders of hemoglobin synthesis (HBA1, HBA2, HBB). (ghcgenetics.com)
  • Targeting the primary pathogenic event of sickle cell disease (SCD), polymerization of sickle hemoglobin (HbS), may prevent downstream clinical events. (bvsalud.org)
  • He suffered from moderate hemolytic anemia (hemoglobin levels ranging from 62 to 91 g/L) associated with macrocytosis, reticulocytosis, neutropenia, and hyperbilirubinemia. (biomedcentral.com)
  • AIDS-like syndrome: AIDS-like disease (illness) (syndrome) ARC AIDS-related complex Pre-AIDS AIDS-related conditions Prodromal-AIDS 3. (cdc.gov)
  • a rare congenital hypoplastic anemia that usually presents early in infancy. (icdlist.com)
  • CLASSIFICATION OF DISEASES AND INJURIES I. INFECTIOUS AND PARASITIC DISEASES (001-139) Includes: diseases generally recognized as communicable or transmissible as well as a few diseases of unknown but possibly infectious origin Excludes: acute respiratory infections (460-466) influenza (487. (cdc.gov)
  • 027.8 Other 027.9 Unspecified OTHER BACTERIAL DISEASES (030-041) Excludes: bacterial venereal diseases (098. (cdc.gov)
  • Treatments for chronic hemolytic anemia include blood transfusions, splenectomy, and supportive therapy. (biomedcentral.com)
  • Here, we reported a patient with compound heterozygous mutation of the GPI gene who presented chronic hemolytic anemic features and reviewed correlative literature. (biomedcentral.com)
  • Sickle cell disease (SCD) is characterized by intermittent vaso-occlusive events and chronic hemolytic anemia. (beds.ac.uk)
  • hemolytic anemia due to various intrinsic defects of the erythrocyte. (icdlist.com)
  • [ 2 ] Of note, type of anemia can also be categorized based on bone marrow responses to anemia using reticulocyte count into hypoproliferative anemia (decreased red blood cell production) and hemolytic anemia (increased red blood cell destruction). (medscape.com)
  • Congenital hemolytic anemia (or hereditary hemolytic anemia ) refers to hemolytic anemia which is primarily due to congenital disorders . (en-academic.com)
  • Our recommendations are intended to enable clinicians to achieve better informed decisions on disease management by splenectomy, on the type of splenectomy and the possible consequences. (haematologica.org)
  • The table below shows human diseases predicted to be associated to Hmbox1 by phenotypic similarity . (mousephenotype.org)
  • The table below shows human diseases associated to Tyk2 by orthology or direct annotation . (mousephenotype.org)
  • the disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (icdlist.com)
  • Sickle cell disease is a hereditary multiorgan disease that is considered rare in the EU. (bvsalud.org)
  • The project also made it possible to list all the needs of people with rare haematological diseases not yet covered health-care providers in the EU to allow optimised care of individuals with rare pathologies, including sickle cell disease. (bvsalud.org)
  • The plasma concentrations of both BNP and NT-proBNP are also typically increased in patients with asymptomatic or symptomatic left ventricular dysfunction and is associated with coronary artery disease and myocardial ischemia. (wikipedia.org)
  • No human diseases associated to this gene by orthology or annotation . (mousephenotype.org)
  • The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER. (mousephenotype.org)
  • On the other hand, an NT-proBNP cut-off value of 318 pg/mL is more appropriate in differing patients with congenital nonspherocytic hemolytic disease (CNHD) from healthy patients, with 94% sensitivity and 97% specificity. (wikipedia.org)
  • In 2017, the Rare Diseases Plan was implemented within the EU and 24 European Reference Networks (ERNs) were created, including the ERN on Rare Haematological Diseases (ERN-EuroBloodNet), dedicated to rare haematological diseases. (bvsalud.org)
  • These individuals may be blood sugar 160 in the morning referred to as having a type of congenital nonspherocytic hemolytic anemia. (esaunggul.ac.id)
  • certain localized infections Note: Categories for "late effects" of infectious and parasitic diseases are to be found at 137. (cdc.gov)
  • Proporciona un análisis completo de los genes implicados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes implicados y su penetrancia alta o intermedia. (igenomix.com)
  • Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. (cdc.gov)
  • Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes. (mousephenotype.org)
  • ICD-9-CM codes are used in medical billing and coding to describe diseases, injuries, symptoms and conditions. (icd9data.com)