• 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)
  • Congenital hemolytic anemia (or hereditary hemolytic anemia ) refers to hemolytic anemia which is primarily due to congenital disorders . (en-academic.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)
  • 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)
  • Hemolysis is usually absent or slight, with little or no anemia except in some homozygous patients (hereditary pyropoikilocytosis). (msdmanuals.com)
  • The mode of inheritance is autosomal dominant, except for hereditary pyropoikilocytosis (HPP) , which is autosomal recessive. (medscape.com)
  • Hereditary elliptocytosis (ovalocytosis) is a rare autosomal dominant disorder in which RBCs are oval or elliptical. (msdmanuals.com)
  • Causes of increased breakdown include genetic disorders such as sickle cell anemia, infections such as malaria, and certain autoimmune diseases. (wikipedia.org)
  • Hereditary spherocytosis and hereditary elliptocytosis are congenital red blood cell (RBC) membrane disorders that can cause a mild hemolytic anemia. (msdmanuals.com)
  • Hereditary spherocytosis is characterized by hemolysis of spheroidal RBCs and anemia. (msdmanuals.com)
  • Hereditary spherocytosis or hereditary elliptocytosis is suspected in patients with unexplained hemolysis (as suggested by the presence of anemia and reticulocytosis), particularly if splenomegaly, a family history of similar manifestations, or suggestive RBC indices are present. (msdmanuals.com)
  • Ideal for patients suspected to have hereditary anemia who have had HBA1 and HBA2 variants excluded as the cause of their anemia or patients suspected to have hereditary anemia who are not suspected to have HBA1 or HBA2 variants as the cause of their anemia. (ghcgenetics.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)
  • SCD is one of the most common genetic blood disorders that can cause several types of chronic and acute complications such as vaso-occlusive crises (VOC), hemolytic anemia, and sequestration crisis. (biophysics.org)
  • Even so, they shed bilayer lipids at a prodigious rate, leading to extreme hemolysis and spherocytosis. (dana-farber.org)
  • During the past decade our laboratory and others have shown that hereditary spherocytosis is caused by defects in the connections that attach the membrane skeleton to the overlying lipid bilayer. (dana-farber.org)
  • Nonimmune anemias Hereditary red cell membrane disorders are accounted for by nonimmune hereditary hemolytic anemias caused by defects in membrane proteins located in distinct layers of the red cell membrane. (bredagenetics.com)
  • In hereditary spherocytosis, symptoms and signs are usually mild. (msdmanuals.com)
  • We hope, in turn, that these models will help in assessing effective drug strategies to combat the clinical symptoms of this genetic blood disorder. (biophysics.org)
  • In hereditary elliptocytosis, genetic mutations result in weakness of the cytoskeleton of the cell, leading to deformation of the cell. (msdmanuals.com)
  • Jeune syndrome is a rare genetic disorder that affects the way a child's cartilage and bones develop. (mdwiki.org)
  • Hereditary spherocytosis and hereditary elliptocytosis are examples of inherited hemolytic anemias. (ghcgenetics.com)
  • Nuances in the understanding of genetics have caused some disorders to be split into multiple entities, while others merged into one genetic condition. (wikipedia.org)
  • however, diagnosis after birth usually occurs through X-rays and genetic testing, such as the tests found on the Genetic Testing Registry Archived 2021-03-18 at the Wayback Machine (GTR). (mdwiki.org)
  • Two preliminary studies finding adeno-associated viruses in pediatric hepatitis cases suggest a child's genetic background and other viruses all act in concert. (cdc.gov)
  • The thalassemias are among the most common genetic disorders worldwide, occurring more frequently in the Mediterranean region, the Indian subcontinent, Southeast Asia, and West Africa. (ghcgenetics.com)
  • Hereditary elliptocytosis: Peripheral blood smear reveals cigar-shaped erythrocytes (elliptocytes). (medscape.com)
  • Hereditary elliptocytosis (HE) encompasses inherited disorders of erythrocytes that have the common feature of elliptical RBCs on morphologic examination and shortened RBC survival. (medscape.com)
  • In hereditary spherocytosis, the cell membrane surface area is decreased disproportionately to the intracellular content due to loss of proteins associated with the cell membrane. (msdmanuals.com)
  • Real-time polymerase chain reaction (Q-PCR) is a DNA fragment amplification technique used to genotype a short genomic sequence or test for a specific genetic variant. (digitis.net)
  • Disease processes may be incited or exacerbated by a variety of external and internal influences, including trauma , infection , poisoning , loss of blood flow , autoimmunity , inherited or acquired genetic damage, or errors of development . (bionity.com)
  • Semiquantitative technique that is widely applied in molecular genetic laboratories and that allows diagnosing pathologies caused by copy number variations and, in some cases, by alterations in DNA methylation. (digitis.net)
  • The real next generation of Predictive Genetic Testing, by the Experts in Rare Diseas. (bredagenetics.com)
  • Hereditary spherocytosis and hereditary elliptocytosis are congenital red blood cell (RBC) membrane disorders that can cause a mild hemolytic anemia. (msdmanuals.com)
  • Causes of increased breakdown include genetic disorders such as sickle cell anemia, infections such as malaria, and certain autoimmune diseases. (wikipedia.org)
  • Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders. (medscape.com)
  • He Y, Jia S, Dewan RK, Liao N. Novel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing. (medscape.com)
  • ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders. (medscape.com)
  • King MJ, Zanella A. Hereditary red cell membrane disorders and laboratory diagnostic testing. (medscape.com)
  • Osmotic gradient ektacytometry (OGE) is currently considered the gold standard for the diagnosis of red cell membrane disorders, especially hereditary spherocytosis (HS). (mdpi.com)
  • 11. [Disorders of the membrane skeleton of erythrocytes in hereditary spherocytosis and elliptocytosis: significance of the molecular defect for pathogenesis and clinical severity]. (nih.gov)
  • the related medical conditions are hepatic disorders, hereditary stomatocytosis, alcoholism and rhnullphenotype. (ehealthhall.com)
  • Examples of cytoskeletal abnormalities include hereditary spherocytosis and elliptocytosis. (medicalnewstoday.com)
  • Red blood cell abnormalities in hereditary elliptocytosis and their relevance to variable clinical expression. (medscape.com)
  • The coincidence of familial mediterranean Fever and hypereosinophilia in a patient with hereditary elliptocytosis. (medscape.com)
  • Newborn hereditary elliptocytosis confirmed by familial genetic testing. (cdc.gov)
  • Hereditary elliptocytosis (ovalocytosis) is a rare autosomal dominant disorder in which RBCs are oval or elliptical. (msdmanuals.com)
  • It is similar to other blood conditions such as hereditary spherocytosis and hereditary ovalocytosis . (medlineplus.gov)
  • Hereditary spherocytosis is characterized by hemolysis of spheroidal RBCs and anemia. (msdmanuals.com)
  • In hereditary spherocytosis, because RBCs are spheroidal and the mean corpuscular volume (MCV) is normal, the mean corpuscular diameter is below normal, and RBCs resemble spherocytes. (msdmanuals.com)
  • RBC enzymopathies are genetic conditions that affect the production of enzymes in RBCs and cell metabolism. (medicalnewstoday.com)
  • In this condition, RBCs become elliptical due to genetic mutation. (fmmagzine.com)
  • Variations in both α-spectrin (SPTA1) and β-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis. (medscape.com)
  • the related medical conditions are genetic spherocytosis, severe burns, newborn jaundice , transfused cells and immune mediated hemolytic anemia. (ehealthhall.com)
  • In hereditary elliptocytosis, genetic mutations result in weakness of the cytoskeleton of the cell, leading to deformation of the cell. (msdmanuals.com)
  • 5. Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing. (nih.gov)
  • 12. The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing. (nih.gov)
  • 15. Two different pathogenic gene mutations coexisted in the same hereditary spherocytosis family manifested with heterogeneous phenotypes. (nih.gov)
  • 16. Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. (nih.gov)
  • 20. Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil. (nih.gov)
  • Hereditary spherocytosis belongs to the congenital hemolytic anemias, named after the microscopic aspect of spherocytes in a blood smear. (onkopedia.com)
  • Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis. (medscape.com)
  • 8. Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis. (nih.gov)
  • Así, fue posible definir que solo se atenderá las cuestiones relacionadas con la edad pediátrica, dejando para un tratamiento posterior aquellas variantes detectadas en genes que sean accionables en edad adulta. (bvsalud.org)
  • En estos últimos años el desarrollo de las tecnologías de secuenciación masiva han provocado una explosión en el descubrimiento de nuevos genes responsables de AIDs monogénicas. (bvsalud.org)
  • 3. A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin. (nih.gov)
  • 7. A novel essential splice site variant in SPTB in a large hereditary spherocytosis family. (nih.gov)
  • 10. Hereditary spherocytosis caused by copy number variation in SPTB gene identified through targeted next-generation sequencing. (nih.gov)
  • 13. SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant. (nih.gov)
  • 17. Whole exome sequencing identifies a novel SPTB frameshift mutation causing hereditary spherocytosis in the Chinese population. (nih.gov)
  • 18. [Genetic Analysis and Prenatal Diagnosis of a Family with Hereditary Spherocytosis Caused by a Novel Compound Heterozygous Mutation of SPTB Gene]. (nih.gov)
  • 4. Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis. (nih.gov)
  • Hereditary elliptocytosis: Variable clinical severity caused by 3 variants in the α-spectrin gene. (medscape.com)
  • The cation-leaky hereditary stomatocytosis syndromes: A tale of six proteins. (amedeo.com)
  • The diagnosis of Hb Bart syndrome is established in a fetus with characteristic hematologic and hemoglobin (Hb) findings and molecular genetic testing that identifies biallelic pathogenic variants in both HBA1 and HBA2 that result in deletion or inactivation of all four α-globin alleles. (nih.gov)
  • The clinical spectrum of hereditary spherocytosis ranges from severe forms requiring transfusions in early childhood to asymptomatic patients with incidental diagnosis by laboratory analysis or other indication. (onkopedia.com)
  • Hereditary Spherocytosis Associated with Gilbert Syndrome Diagnosed with Liver Biopsy Examination and Exome Sequencing. (nih.gov)
  • Elliptocytosis affects about 1 in every 2,500 people of northern European heritage. (medlineplus.gov)
  • Genetic variants causing G6PD deficiency: Clinical and biochemical data support new WHO classification. (amedeo.com)
  • In hereditary spherocytosis, the cell membrane surface area is decreased disproportionately to the intracellular content due to loss of proteins associated with the cell membrane. (msdmanuals.com)
  • Hereditary elliptocytosis (HE) must be differentiated from hereditary spherocytosis (HS), which is the most common red blood cell (RBC) membranopathy. (medscape.com)
  • The common hereditary elliptocytosis-associated a-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation. (medscape.com)
  • Semiquantitative technique that is widely applied in molecular genetic laboratories and that allows diagnosing pathologies caused by copy number variations and, in some cases, by alterations in DNA methylation. (digitis.net)
  • Genetic counseling may be appropriate for people with a family history of this disease who wish to become parents. (medlineplus.gov)
  • Hereditary elliptocytosis is a disorder passed down through families in which the red blood cells are abnormally shaped. (medlineplus.gov)
  • 9. Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study. (nih.gov)
  • Las técnicas de Biología Molecular de última generación, como es la secuenciación masiva en paralelo o NGS (Next Generation Sequencing), permite obtener gran cantidad de información genómica, la cual muchas veces va más allá de la detección de una variante patogénica en un gen que explique la patología (hallazgo primario). (bvsalud.org)