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Hereditary spherocytosis

Index Hereditary spherocytosis

Hereditary spherocytosis (also known as Minkowski–Chauffard syndrome) is an abnormality of red blood cells, or erythrocytes. [1]

59 relations: Anemia, ANK1, Ankyrin, Artery, Band 3, Bilirubin, Blood film, Blood transfusion, Capillary, Cardiomyopathy, Cholecystectomy, Cords of Billroth, Dominance (genetics), Erythrocyte fragility, Fatigue, Flow cytometry, Folate deficiency, Gallbladder, Gallstone, Gene expression, Gene therapy, Glycated hemoglobin, Gold standard (test), Harrison's Principles of Internal Medicine, Hematology, Heme, Hemoglobin, Hemolysis, Hemolytic anemia, Hereditary elliptocytosis, Hereditary pyropoikilocytosis, Hereditary stomatocytosis, Howell–Jolly body, Hypoxia (medical), Infection, Influenza, Iron, Iron overload, Kernicterus, Liver disease, Mean corpuscular hemoglobin concentration, Microvesicles, Mutation, Neisseria meningitidis, Online Mendelian Inheritance in Man, Parvovirus B19, Penetrance, Protein 4.2, Red blood cell, Reticulocyte, ..., Sepsis, Spectrin, Spectrin, alpha 1, Spherocytosis, Spleen, Splenectomy, Splenomegaly, SPTB, Streptococcus pneumoniae. Expand index (9 more) »

Anemia

Anemia is a decrease in the total amount of red blood cells (RBCs) or hemoglobin in the blood, or a lowered ability of the blood to carry oxygen.

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ANK1

Ankyrin 1, erythrocytic, also known as ANK1, is a protein that in humans is encoded by the ANK1 gene.

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Ankyrin

Ankyrins are a family of proteins that mediate the attachment of integral membrane proteins to the spectrin-actin based membrane cytoskeleton.

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Artery

An artery (plural arteries) is a blood vessel that takes blood away from the heart to all parts of the body (tissues, lungs, etc).

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Band 3

Band 3 anion transport protein, also known as anion exchanger 1 (AE1) or band 3 or solute carrier family 4 member 1 (SLC4A1), is a protein that is encoded by the SLC4A1 gene in humans.

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Bilirubin

Bilirubin is a yellow compound that occurs in the normal catabolic pathway that breaks down heme in vertebrates.

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Blood film

A blood film—or peripheral blood smear—is a thin layer of blood smeared on a glass microscope slide and then stained in such a way as to allow the various blood cells to be examined microscopically.

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Blood transfusion

Blood transfusion is generally the process of receiving blood or blood products into one's circulation intravenously.

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Capillary

A capillary is a small blood vessel from 5 to 10 micrometres (µm) in diameter, and having a wall one endothelial cell thick.

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Cardiomyopathy

Cardiomyopathy is a group of diseases that affect the heart muscle.

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Cholecystectomy

Cholecystectomy is the surgical removal of the gallbladder.

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Cords of Billroth

The Cords of Billroth (also known as splenic cords or red pulp cords) are found in the red pulp of the spleen between the sinusoids, consisting of fibrils and connective tissue cells with a large population of monocytes and macrophages.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Erythrocyte fragility

Erythrocyte fragility refers to the propensity of erythrocytes (red blood cells, RBC) to hemolyse (rupture) under stress.

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Fatigue

Fatigue is a subjective feeling of tiredness that has a gradual onset.

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Flow cytometry

In biotechnology, flow cytometry is a laser- or impedance-based, biophysical technology employed in cell counting, cell sorting, biomarker detection and protein engineering, by suspending cells in a stream of fluid and passing them through an electronic detection apparatus.

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Folate deficiency

Folate deficiency is a low level of folic acid and derivatives in the body.

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Gallbladder

In vertebrates, the gallbladder is a small hollow organ where bile is stored and concentrated before it is released into the small intestine.

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Gallstone

A gallstone is a stone formed within the gallbladder out of bile components. The term cholelithiasis may refer to the presence of gallstones or to the diseases caused by gallstones. Most people with gallstones (about 80%) never have symptoms. When a gallstone blocks the bile duct, a crampy pain in the right upper part of the abdomen, known as biliary colic (gallbladder attack) can result. This happens in 1–4% of those with gallstones each year. Complications of gallstones may include inflammation of the gallbladder (cholecystitis), inflammation of the pancreas (pancreatitis), jaundice, and infection of a bile duct (cholangitis). Symptoms of these complications may include pain of more than five hours duration, fever, yellowish skin, vomiting, dark urine, and pale stools. Risk factors for gallstones include birth control pills, pregnancy, a family history of gallstones, obesity, diabetes, liver disease, or rapid weight loss. The bile components that form gallstones include cholesterol, bile salts, and bilirubin. Gallstones formed mainly from cholesterol are termed cholesterol stones, and those mainly from bilirubin are termed pigment stones. Gallstones may be suspected based on symptoms. Diagnosis is then typically confirmed by ultrasound. Complications may be detected on blood tests. The risk of gallstones may be decreased by maintaining a healthy weight through sufficient exercise and eating a healthy diet. If there are no symptoms, treatment is usually not needed. In those who are having gallbladder attacks, surgery to remove the gallbladder is typically recommended. This can be carried out either through several small incisions or through a single larger incision, usually under general anesthesia. In rare cases when surgery is not possible medication may be used to try to dissolve the stones or lithotripsy to break down the stones. In developed countries, 10–15% of adults have gallstones. Rates in many parts of Africa, however, are as low as 3%. Gallbladder and biliary related diseases occurred in about 104 million people (1.6%) in 2013 and they resulted in 106,000 deaths. Women more commonly have stones than men and they occur more commonly after the age of 40. Certain ethnic groups have gallstones more often than others. For example, 48% of Native Americans have gallstones. Once the gallbladder is removed, outcomes are generally good.

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Gene expression

Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product.

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Gene therapy

In the medicine field, gene therapy (also called human gene transfer) is the therapeutic delivery of nucleic acid into a patient's cells as a drug to treat disease.

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Glycated hemoglobin

Glycated hemoglobin (hemoglobin A1c, HbA1c, A1C, or Hb1c; sometimes also referred to as being Hb1c or HGBA1C) is a form of hemoglobin that is measured primarily to identify the three-month average plasma glucose concentration.

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Gold standard (test)

In medicine and statistics, gold standard test is usually diagnostic test or benchmark that is the best available under reasonable conditions.

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Harrison's Principles of Internal Medicine

Harrison's Principles of Internal Medicine is an American textbook of internal medicine.

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Hematology

Hematology, also spelled haematology, is the branch of medicine concerned with the study of the cause, prognosis, treatment, and prevention of diseases related to blood.

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Heme

Heme or haem is a coordination complex "consisting of an iron ion coordinated to a porphyrin acting as a tetradentate ligand, and to one or two axial ligands." The definition is loose, and many depictions omit the axial ligands.

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Hemoglobin

Hemoglobin (American) or haemoglobin (British); abbreviated Hb or Hgb, is the iron-containing oxygen-transport metalloprotein in the red blood cells of all vertebrates (with the exception of the fish family Channichthyidae) as well as the tissues of some invertebrates.

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Hemolysis

Hemolysis or haemolysis, also known by several other names, is the rupturing (lysis) of red blood cells (erythrocytes) and the release of their contents (cytoplasm) into surrounding fluid (e.g. blood plasma).

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Hemolytic anemia

Hemolytic anemia or haemolytic anaemia is a form of anemia due to hemolysis, the abnormal breakdown of red blood cells (RBCs), either in the blood vessels (intravascular hemolysis) or elsewhere in the human body (extravascular, but usually in the spleen).

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Hereditary elliptocytosis

Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the patient's erythrocytes (i.e. red blood cells) are elliptical rather than the typical biconcave disc shape.

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Hereditary pyropoikilocytosis

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.

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Hereditary stomatocytosis

Hereditary stomatocytosis describes a number of inherited autosomal dominant human conditions which affect the red blood cell, in which the membrane or outer coating of the cell 'leaks' sodium and potassium ions.

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Howell–Jolly body

A Howell–Jolly body is a histopathological finding of basophilic nuclear remnants (clusters of DNA) in circulating erythrocytes.

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Hypoxia (medical)

Hypoxia is a condition in which the body or a region of the body is deprived of adequate oxygen supply at the tissue level.

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Infection

Infection is the invasion of an organism's body tissues by disease-causing agents, their multiplication, and the reaction of host tissues to the infectious agents and the toxins they produce.

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Influenza

Influenza, commonly known as "the flu", is an infectious disease caused by an influenza virus.

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Iron

Iron is a chemical element with symbol Fe (from ferrum) and atomic number 26.

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Iron overload

Iron overload (variously known as haemochromatosis, hemochromatosis, hemochromocytosis, Celtic curse, Irish illness, British gene, Scottish sickness and bronzing diabetes) indicates accumulation of iron in the body from any cause.

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Kernicterus

Kernicterus is a bilirubin-induced brain dysfunction.

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Liver disease

Liver disease (also called hepatic disease) is a type of damage to or disease of the liver.

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Mean corpuscular hemoglobin concentration

The Mean corpuscular hemoglobin concentration, a measure of the concentration of haemoglobin in a given volume of packed red blood cells.

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Microvesicles

Microvesicles (circulating microvesicles, or microparticles) are a type of extracellular vesicle, between 50 and 1,000 nanometers (nm) in diameter, found in many types of body fluids as well as the interstitial space between cells.

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Mutation

In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.

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Neisseria meningitidis

Neisseria meningitidis, often referred to as meningococcus, is a Gram-negative bacterium that can cause meningitis and other forms of meningococcal disease such as meningococcemia, a life-threatening sepsis.

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Online Mendelian Inheritance in Man

Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship.

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Parvovirus B19

Primate erythroparvovirus 1, generally referred to as B19 virus, parvovirus B19 or sometimes erythrovirus B19, was the first (and until 2005 the only) known human virus in the family Parvoviridae, genus Erythroparvovirus; it measures only 23–26 nm in diameter.

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Penetrance

Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype).

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Protein 4.2

Erythrocyte membrane protein band 4.2 is a protein that in humans is encoded by the EPB42 gene.

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Red blood cell

Red blood cells-- also known as RBCs, red cells, red blood corpuscles, haematids, erythroid cells or erythrocytes (from Greek erythros for "red" and kytos for "hollow vessel", with -cyte translated as "cell" in modern usage), are the most common type of blood cell and the vertebrate's principal means of delivering oxygen (O2) to the body tissues—via blood flow through the circulatory system.

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Reticulocyte

Reticulocytes are immature red blood cells, typically composing about 1% of the red blood cells in the human body.

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Sepsis

Sepsis is a life-threatening condition that arises when the body's response to infection causes injury to its own tissues and organs.

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Spectrin

Spectrin is a cytoskeletal protein that lines the intracellular side of the plasma membrane in eukaryotic cells.

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Spectrin, alpha 1

Spectrin alpha chain, erythrocyte is a protein that in humans is encoded by the SPTA1 gene.

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Spherocytosis

Spherocytosis is the presence in the blood of spherocytes, i.e erythrocytes (red blood cells) that are sphere-shaped rather than bi-concave disk shaped as normal.

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Spleen

The spleen is an organ found in virtually all vertebrates.

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Splenectomy

A splenectomy is a surgical procedure that partially or completely removes the spleen.

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Splenomegaly

Splenomegaly is an enlargement of the spleen.

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SPTB

Spectrin beta chain, erythrocyte is a protein that in humans is encoded by the SPTB gene.

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Streptococcus pneumoniae

Streptococcus pneumoniae, or pneumococcus, is a Gram-positive, alpha-hemolytic (under aerobic conditions) or beta-hemolytic (under anaerobic conditions), facultative anaerobic member of the genus Streptococcus.

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Redirects here:

Congenital Spherocytosis, Congenital spherocytic anemia, Congenital spherocytic hemolytic anemia, Hereditary spherocytosis 1, Hereditary spherocytosis 2, 3, Minkowski-Chauffard disease, Minkowski-Chauffard syndrome, Minkowski–Chauffard syndrome, Spherocytosis, hereditary.

References

[1] https://en.wikipedia.org/wiki/Hereditary_spherocytosis

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