Spherocytosis is an auto-hemolytic anemia (a disease of the blood) characterized by the production of red blood cells (RBCs), or erythrocytes, that are sphere-shaped, rather than donut-shaped. It is caused by a molecular defect in one or more of the proteins of the red blood cell cytoskeleton (usually ankyrin, sometimes spectrin). Because the cell skeleton has a defect, the blood cell contracts to its most surface-tension efficient and least flexible configuration, a sphere, rather than the more flexible donut-shape. The sphere-shaped red blood cells are known as spherocytes. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... Hemolysis (alternative spelling haemolysis) literally means the excessive breakdown of red blood cells. ... Anemia (AmE) or anaemia (BrE), from the Greek () meaning without blood, is a deficiency of red blood cells (RBCs) and/or hemoglobin. ... Blood diseases affect the production of blood and its components, such as blood cells, hemoglobin, blood proteins, the mechanism of coagulation, etc. ... Human red blood cells Red blood cells are the most common type of blood cell and the vertebrate bodys principal means of delivering oxygen from the lungs or gills to body tissues via the blood. ... A representation of the 3D structure of myoglobin, showing coloured alpha helices. ... The eukaryotic cytoskeleton. ... Ankyrin is a membrane protein that mediates the attachment of the erythrocyte membrane skeleton to the plasma membrane and interacts with CD44 and inositol triphosphate. ... Spectrin is a cytoskeletal protein that lines the intracellular side of the plasma membrane of many cell types in pentagonal or hexagonal arrangements, forming a scaffolding and playing an important role in maintenance of plasma membrane integrity and cytoskeletal structure (Huh et al. ...

Though the spherocytes have a smaller surface area through which oxygen and carbon dioxide can be exchanged, they in themselves perform adequately to maintain healthy oxygen supplies. However, they have a high osmotic fragility--when placed into water, they are more likely to burst than normal red blood cells. These cells are more prone to physical degradation. They are most commonly found in immunologically-mediated hemolytic anemias and in hereditary spherocytosis, but the former would have a positive direct Coombs test and the latter would not. The misshapen but otherwise healthy red blood cells are mistaken by the spleen for old or damaged red blood cells and it thus constantly breaks them down, causing a cycle whereby the body destroys its own blood supply (auto-hemolysis). General Name, Symbol, Number oxygen, O, 8 Chemical series nonmetals, chalcogens Group, Period, Block 16, 2, p Appearance colorless (gas) very pale blue (liquid) Standard atomic weight 15. ... Carbon dioxide is a chemical compound composed of one carbon and two oxygen atoms. ... osmosis is the net movement of water across a partially permeable membrane from a region of high solvent potential to an area of low solvent potential, up a solute concentration gradient. ... Hemolytic anemia is anemia due to hemolysis, the abnormal breakdown of red blood cells either in the blood vessels (intravascular hemolysis) or elsewhere in the body (extravascular). ... Hereditary spherocytosis is a genetic disorder of the red blood cells that makes them prone to hemolysis. ... Coombs test (also known as Coombs test, antiglobulin test or AGT) refers to two clinical blood tests used in hematology and immunology. ... The spleen is an organ located the abdomen, where it functions in the destruction of old white blood cells and holding a reservoir of blood. ... Hemolysis (alternative spelling haemolysis) literally means the excessive breakdown of red blood cells. ...

Symptoms

The spleen's hemolysis results directly in varying degrees of anemia and hyperbilirubinemia, which in turn result in symptoms of fatigue, pallor, and jaundice. The spleen is an organ located the abdomen, where it functions in the destruction of old white blood cells and holding a reservoir of blood. ... Hemolysis (alternative spelling haemolysis) literally means the excessive breakdown of red blood cells. ... Anemia (AmE) or anaemia (BrE), from the Greek () meaning without blood, is a deficiency of red blood cells (RBCs) and/or hemoglobin. ... The word fatigue is used in everyday living to describe a range of afflictions, varying from a general state of lethargy to a specific work induced burning sensation within muscle. ... Pallor is an abnormal loss of skin or mucous membrane color. ... Jaundice, also known as icterus (attributive adjective: icteric), is a yellowing of the skin, conjunctiva (a clear covering over the sclera, or whites of the eyes) and mucous membranes caused by increased levels of bilirubin in red blooded animals. ...

 Acute cases can threaten hypoxemia through anemia and acute kernicterus through hyperbilirubinemia, particularly in newborns. 

Chronic symptoms include anemia and splenomegaly, or enlargement of the spleen due to its increased activity. In some cases the spleen continues to change sizes. Yet in other cases the spleen just continues growing which puts the patient at a greater risk for rupture, which can cause death. Furthermore, the detritus of the broken-down blood cells--bilirubin--accumulates in the gallbladder, and can cause gallstones or "sludge" to develop. In chronic patients, an infection or other illness can cause an increase in the destruction of red blood cells, resulting in the appearance of acute symptoms, a hemolytic crisis. Hypoxia is a pathological condition in which the body as a whole (generalised hypoxia) or region of the body (tissue hypoxia) is deprived of adequate oxygen supply. ... Anemia (AmE) or anaemia (BrE), from the Greek () meaning without blood, is a deficiency of red blood cells (RBCs) and/or hemoglobin. ... Kernicterus is damage to the brain centers of infants caused by jaundice. ... Anemia (AmE) or anaemia (BrE), from the Greek () meaning without blood, is a deficiency of red blood cells (RBCs) and/or hemoglobin. ... Splenomegaly is an enlargement of the spleen, which usually lies in the left upper quadrant (LUQ) of the human abdomen. ... The spleen is an organ located the abdomen, where it functions in the destruction of old white blood cells and holding a reservoir of blood. ... Splenomegaly is an enlargement of the spleen, which usually lies in the left upper quadrant (LUQ) of the human abdomen. ... Bilirubin is a yellow breakdown product of normal heme catabolism. ... The gallbladder (or cholecyst, sometimes gall bladder) is a pear-shaped organ that stores about 50 ml of bile (or gall) until the body needs it for digestion. ... In medicine, gallstones are crystalline bodies formed within the body by accretion or concretion of normal or abnormal bile components. ... An infection is the detrimental colonization of a host organism by a foreign species. ...

Diagnosis

In peripheral blood smears, many of the red blood cells will appear abnormally small and will lack the central pallor--the lighter area in the middle of a RBC as seen under a microscope. A microscopic view of an abnormal blood film. ... Human red blood cells Red blood cells are the most common type of blood cell and the vertebrate bodys principal means of delivering oxygen from the lungs or gills to body tissues via the blood. ... Robert Hookes microscope (1665) - an engineered device used to study living systems. ...

The splenic cords are congested with red blood cells to be destroyed and macrophages of the spleen will show signs of actively destroying erythrocytes (erythrophagocytosis). This will result in an elevated bilirubin level. The spleen is an organ located the abdomen, where it functions in the destruction of old white blood cells and holding a reservoir of blood. ... A macrophage of a mouse stretching its arms to engulf two particles, possibly pathogens Macrophages (Greek: big eaters, makros = long, phagein = eat) are white blood cells, more specifically phagocytes, acting in the nonspecific defense as well as the specific defense system of vertebrate animals. ... Bilirubin is a yellow breakdown product of normal heme catabolism. ...

The bone marrow in its role of manufacturing red blood cells will display hyperplasia, the increased activity of replacing RBCs. As a result, immature red blood cell--or reticulocyte--counts will appear elevated. Grays Anatomy illustration of cells in bone marrow. ... Hyperplasia (or hypergenesis) is a general term for an increase in the number of the cells of an organ or tissue causing it to increase in size. ... Reticulocyte Erythrocyte Reticulocytes are immature red blood cells, typically comprising about 1% of the red cells in the human body. ...

Treatment

Treatment of acute symptoms

Acute symptoms of anemia and hyperbilirubinemia can indicate treatment with blood transfusions or exchanges. Transfusions treat anemia by adding healthy donor blood to the patient's own, providing needed red blood cells. As the transfused blood does not contain elliptocytes, it will not be hemolysed per se, but the overactive spleen may still break down a significant proportion of the transfused blood. Exchanges treat hyperbilirubinemia by replacing some portion of the patient's blood with healthy donor blood, thus removing some portion of the toxic bilirubin. Anemia (AmE) or anaemia (BrE), from the Greek () meaning without blood, is a deficiency of red blood cells (RBCs) and/or hemoglobin. ... Donating blood Blood transfusion is the process of transferring blood or blood-based products from one person into the circulatory system of another. ... Anemia (AmE) or anaemia (BrE), from the Greek () meaning without blood, is a deficiency of red blood cells (RBCs) and/or hemoglobin. ... Human red blood cells Red blood cells are the most common type of blood cell and are the vertebrate bodys principal means of delivering oxygen to body tissues via the blood. ... Bilirubin is a yellow breakdown product of normal heme catabolism. ...

Treatment of chronic symptoms

Chronic symptoms of anemia and splenomegaly typically indicate dietary supplementation of iron and eventual treatment by splenectomy, the surgical removal of the spleen. Anemia (AmE) or anaemia (BrE), from the Greek () meaning without blood, is a deficiency of red blood cells (RBCs) and/or hemoglobin. ... Splenomegaly is an enlargement of the spleen, which usually lies in the left upper quadrant (LUQ) of the human abdomen. ... General Name, Symbol, Number iron, Fe, 26 Chemical series transition metals Group, Period, Block 8, 4, d Appearance lustrous metallic with a grayish tinge Standard atomic weight 55. ... A splenectomy is a procedure that involves the removal of the spleen by operative means. ... The spleen is an organ located the abdomen, where it functions in the destruction of old white blood cells and holding a reservoir of blood. ...

Iron supplementation supports the increased production of red blood cells, but in longstanding cases in which patients have taken supplemental iron or received numerous blood transfusions, iron overload may be a significant problem, being a potential cause of cardiomyopathy and liver disease. If there is iron overload, chelation therapy with agents such as desferrioxamine may be necessary. General Name, Symbol, Number iron, Fe, 26 Chemical series transition metals Group, Period, Block 8, 4, d Appearance lustrous metallic with a grayish tinge Standard atomic weight 55. ... Donating blood Blood transfusion is the process of transferring blood or blood-based products from one person into the circulatory system of another. ... In medicine, iron overload disorders are diseases caused by the accumulation of iron in the body. ... The liver is an organ in vertebrates including humans. ... In medicine, iron overload disorders are diseases caused by the accumulation of iron in the body. ... Chelation therapy is a process involving the use of chelating agents to remove heavy metals from the body. ... Deferoxamine, otherwise known as desferrioxamine or desferal, is a chelating agent used to remove excess iron from the body. ...

While splenectomy does not affect the shape of the blood cells, it does remove the more obvious physical symptoms of the disorder, as the blood cells are no longer constantly broken down. Though it offers near-immediate relief from symptoms, splenectomy is often not performed until the patient is in late childhood, so as not to hinder the patient's ability to fight off childhood infections. Currently, the surgery is often performed laparoscopically; this results in a shorter recovery time and a much smaller scar. Given that surgery is preplanned, it is highly recommended that patients receive prior Pneumovax-II pneumococcus, conjugated-C meningococcus & Haemophilus influenzae type b vaccinations to combat the patient's new lower tolerance against overwhelming post-splenectomy infection. The Pneumovax needs repeating every six years and the patient should have a yearly flu vaccine. Prophylactic antibiotics are also given. (See asplenia for further details on these measures). A splenectomy is a procedure that involves the removal of the spleen by operative means. ... The term symptom (from the Greek syn = con/plus and pipto = fall, together meaning co-exist) has two similar meanings in the context of physical and mental health: A symptom can be a physical condition which shows that one has a particular illness or disorder (see e. ... An infection is the detrimental colonization of a host organism by a foreign species. ... A cardiothoracic surgeon performs a mitral valve replacement at the Fitzsimons Army Medical Center. ... Laparoscopic surgery, also called keyhole surgery (when natural body openings are not used), bandaid surgery, or minimally invasive surgery (MIS), is a surgical technique. ... This article or section does not adequately cite its references or sources. ... Binomial name Streptococcus pneumoniae Streptococcus pneumoniae is a species of Streptococcus that is a major human pathogen. ... Neisseria is a genus of bacteria, included among the proteobacteria, a large group of gram-negative forms. ... Haemophilus influenzae, formerly called Pfeiffers bacillus, is a non-motile Gram-negative coccobacillus first described in 1892 by Dr. Robert Pfeiffer during the influenza pandemic. ... Vaccination is a term coined by Edward Jenner for the process of administering a weakened form of a disease to patients as a means of giving them immunity to a more serious form of the disease. ... Overwhelming post-splenectomy infection or OPSI is a rapidly fatal septicaemia infection due to the absence of spleen (asplenia) protection against certain bacteria. ... Model of Influenza Virus from NIH The flu vaccine is a vaccine to protect against the highly variable influenza virus. ... This page is a candidate to be moved to Wiktionary. ... An antibiotic is a drug that kills or slows the growth of bacteria. ... Asplenia refers to the absence (a-) of normal spleen function and is associated with some risks. ...

Treatment of the disorder

Both measures described above treat the symptoms, not the cause of the disorder. Non-hereditary spherocytosis has several causes, each treated differently. Experimental gene therapy exists to treat hereditary spherocytosis in lab mice; however, this treatment has not yet been tried on humans and because of the risks involved in human gene therapy, it may never be. See also Hereditary spherocytosis. Gene therapy is the insertion of genes into an individuals cells and tissues to treat a disease, and hereditary diseases in which a defective mutant allele is replaced with a functional one. ... Hereditary spherocytosis is a genetic disorder of the red blood cells that makes them prone to hemolysis. ... Hereditary spherocytosis is a genetic disorder of the red blood cells that makes them prone to hemolysis. ...

See also

• Hereditary spherocytosis
• Anemia
• Blood
• Blood diseases
• Red blood cells
• Hereditary diseases

Hereditary spherocytosis is a genetic disorder of the red blood cells that makes them prone to hemolysis. ... Anemia (AmE) or anaemia (BrE), from the Greek () meaning without blood, is a deficiency of red blood cells (RBCs) and/or hemoglobin. ... Human blood smear: a - erythrocytes; b - neutrophil; c - eosinophil; d - lymphocyte. ... Blood diseases affect the production of blood and its components, such as blood cells, hemoglobin, blood proteins, the mechanism of coagulation, etc. ... Human red blood cells Red blood cells are the most common type of blood cell and are the vertebrate bodys principal means of delivering oxygen to body tissues via the blood. ... A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. ...

External links

• Spherocytes: Presented by the University of Virginia

• Mendelian Inheritance in Man (OMIM) 182900
• A short article from WebMD
• A picture of spherocytes from Medline
• A detailed and technical (but good) article from eMedicine

The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...

References

• Kumar, Vinay, Abul Abbas, and Nelson Fausto. "Robbins and Cotran Pathologic Basis of Disease, 7th edition (2004)."
• Schneider, Arthur S. and Philip A. Stanzo. "Board Review Series: Pathology, 2nd edition (2002)."