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Topic: Spherocytosis

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	Spherocytosis - Wikipedia, the free encyclopedia
		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.
		They are most commonly found in immunologically-mediated hemolytic anemias and in hereditary spherocytosis, but the former would have a positive direct Coombs antibody test and the latter would not.
		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.
	en.wikipedia.org /wiki/Spherocytosis (810 words)

	Hereditary spherocytosis - Wikipedia, the free encyclopedia
		Hereditary spherocytosis is an autosomal dominant trait, most commonly (though not exclusively) found in Northern European and Japanese families, although an estimated 25% of cases are due to spontaneous mutations.
		Hereditary spherocytosis is caused by a variety of molecular defects in the genes that code for spectrin, ankyrin, protein 4.1, and other erythrocyte membrane proteins.
		As in non-hereditary spherocytosis, acute symptoms of anemia and hyperbilirubinemia indicate treatment with blood transfusions or exchanges and chronic symptoms of anemia and splenomegaly indicate dietary supplementation of iron and splenectomy, the surgical removal of the spleen.
	en.wikipedia.org /wiki/Hereditary_spherocytosis (396 words)

	spherocytosis (Site not responding. Last check: 2007-11-01)
		Spherocytosis is an inherited disorder of the red blood cells.
		Definitive treatment of spherocytosis is surgical removal of the spleen, but this is delayed as long as possible in children (usually age 5 or 6) because of the vital role the spleen plays in protecting us against overwhelming infections.
		Children with spherocytosis require immunization against the pneumococcus bacterium and prohylactic antibiotic treatment as well to lessen the risk of sepsis.
	www.drhull.com /EncyMaster/S/spherocytosis.html (257 words)

	Spherocytosis, hereditary: Encyclopedia of Genetic Disorders
		Hereditary spherocytosis (HS) is a relatively common and highly variable inherited disorder of the red blood cells.
		Hereditary spherocytosis results from a molecular change in one of the proteins making up the cytoskeleton of the red blood cell.
		Rarely, spherocytosis can be one symptom within a larger syndrome that is due to a deletion of a portion of chromosome 8.
	health.enotes.com /genetic-disorders-encyclopedia/spherocytosis-hereditary (1837 words)

	Spherocytosis - hereditary spherocytosis
		These misshapen but healthy red blood cells are mistaken by heriditary spherocytosis the spleen for old or damaged red blood pain with hereditary spherocytosis cells and are thus constantly being broken down, causing a cycle whereby the body destroys its own blood supply (hemolysis).
		Spherocytosis is an autosomal dominant trait, most commonly (though not exclusively) found in Northern European and Japanese families, although an estimated 25% of cases are due to spontaneous mutations.
		Experimental gene therapy exists to treat 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.
	www.medicalgeo.com /Med-Diseases-Sh---Sz/Spherocytosis.html (646 words)

	Pathology LabNotes November, 2005 Valley View Hospital (Site not responding. Last check: 2007-11-01)
		Hereditary spherocytosis was first described in 1871 as “microcythemia” in a young girl with repeated attacks of abdominal pain and jaundice.
		Hereditary spherocytosis affects the sexes equally and, although the prevalence is highest (approaching 1 in 5000) in those of Northern European extraction, occurs in all racial and ethnic groups.
		Diagnosis of hereditary spherocytosis during an acute (aplastic) crisis may also be difficult, as the abrupt nature of the event suggests an acquired disease and the absence of reticulocytosis would militate against hemolysis.
	www.vvh.org /healthinfo/lab/2005_nov.htm (1832 words)

	Statements of Principles — hereditary spherocytosis (Site not responding. Last check: 2007-11-01)
		"Hereditary spherocytosis" means a congenital haemolytic condition arising from a defect in one of the proteins in the red blood cell membrane leading to a decreased ratio of surface area to volume of the cell and the consequent development of spherocytes and attracting the ICD code of 282.0.
		The diagnosis of hereditary spherocytosis can be accepted by the Repatriation Commission when it is confirmed by a general medical practitioner or specialist as the final diagnosis or on advice by a Departmental Medical Officer.
		In hereditary spherocytosis the life-span of the red blood cell is shortened because of a defect in the red cell membrane and, as the bone marrow is not able to adequately replenish the prematurely destroyed cells, anaemia may result.
	www.dva.gov.au /pensions/statemnt/p014.htm (926 words)

	BloodGivers.com --- Blood Disorders - Spherocytosis (Site not responding. Last check: 2007-11-01)
		However hereditary spherocytosis is generally a mild disease which does not cause many complications.
		Spherocytosis can be passed from parents to their offspring.
		Families with a history of spherocytosis should have their offspring screened for this disorder.
	www.bloodgivers.com /spherocytosis.asp (338 words)

	Pathology
		Hereditary spherocytosis is characterized by numerous spherocytes on the PBS (right).
		Although a spectrin deficiency is seen in nearly all HS patients, it is thought that the principle defect is an abnormality of the membrane protein ankyrin.
		In other cases the defects are found in the horizontal junctions between the a-spectrin and b- spectrin dimers or between spectrin, actin and band 4.1.
	www.med-ed.virginia.edu /courses/path/innes/rcd/membrane.cfm (749 words)

	Lifespan's A - Z Health Information Library - Congenital spherocytic anemia
		A family history of spherocytosis increases the risk for this disorder.
		Splenectomy (surgical removal of the spleen) cures the anemia of spherocytosis.
		Families with a history of spherocytosis should have their children screened for this disorder.
	www.lifespan.org /adam/healthillustratedencyclopedia/1/000530.html (446 words)

	Spherocytosis, hereditary (HS) definition - Medical Dictionary definitions of popular medical terms
		Spherocytosis, hereditary (HS): A genetic disorder of the red blood cell membrane clinically characterized by anemia, jaundice (yellowing) and splenomegaly (enlargement of the spleen).
		The treatment of hereditary spherocytosis is to remove the spleen (splenectomy).
		HS is also known as congenital hemolytic jaundice, severe atypical spherocytosis, spherocytosis type II, ankyrin deficiency, erythrocyte ankyrin deficiency, ankyrin-R deficiency, and ankyrin1 deficiency.
	www.medterms.com /script/main/art.asp?articlekey=8622 (524 words)

	Hereditary spherocytosis; new guidelines -- Bolton-Maggs 89 (9): 809 -- Archives of Disease in Childhood
		Hereditary spherocytosis; new guidelines -- Bolton-Maggs 89 (9): 809 -- Archives of Disease in Childhood
		Hereditary spherocytosis (HS) is the commonest cause of haemolysis
		spherocytosis (HS) is the commonest cause of inherited haemolysis
	adc.bmjjournals.com /cgi/content/full/89/9/809 (2814 words)

	eMedicine - Spherocytosis, Hereditary : Article Excerpt by: Gus Gonzalez, MD
		Background: Hereditary spherocytosis (HS) is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an asymptomatic condition to fulminant hemolytic anemia.
		The morphologic hallmark of HS is the microspherocyte, which is caused by loss of membrane surface area, and an abnormal osmotic fragility in vitro.
		Biochemical spectrin deficiency and the degree of spectrin deficiency are reported to correlate with the extent of spherocytosis, the degree of abnormality on osmotic fragility test results, and the severity of hemolysis.
	www.emedicine.com /med/byname/spherocytosis-hereditary.htm (589 words)

	Characterization of the Underlying Molecular Defect in Hereditary Spherocytosis Associated With Spectrin Deficiency -- ...
		Most of the mutations described are responsible for a phenotype of mild to moderate autosomal dominant form of HS associated with a conspicuous spherocytosis with frequent spiculated cells (8% to 15% acanthocytes).
		The lipid bilayer that constitutes this membrane is supported by the RBC skeleton, a protein lattice that laminates the inner side of the RBC membrane, and which is partly responsible for the shape and deformability of the RBC.
		We have studied 40 families from the United States and Europe with a diagnosis of typical hereditary spherocytosis based on a history of hereditary hemolytic anemia, associated with a characteristic spherocytic phenotype of the RBCs, and an increased osmotic fragility, as well as exclusion of other known causes of spherocytic hemolytic anemias.
	www.bloodjournal.org /cgi/content/full/90/1/398 (6377 words)

	Spherocytosis- The Doctors Lounge(TM)
		Spherocytosis is an anemia characterized by red blood cells that are sphere-shaped, rather than donut-shaped.
		Spherocytes are most commonly found in immunologically-mediated hemolytic anemias and in hereditary spherocytosis.
		Hereditary spherocytosis is caused by a molecular defect in one of the proteins of the red blood cell cytoskeleton (usually ankyrin, sometimes spectrin).
	www.thedoctorslounge.net /hematology/diseases/spherocytosis.htm (104 words)

	Partial Splenectomy Helps Some Hereditary Blood Disorders
		While they are relatively rare, one of the more common types of hereditary anemias is hereditary spherocytosis (HS), which often shows up in infancy or early childhood.
		After splenectomy (removal of the spleen), the red cell defect persists, but the destruction of the red cells is substantially diminished, minimizing the disease," according to Keith T. Oldham, MD, Professor and Chief of Pediatric Surgery at the Medical College of Wisconsin.
		The study is significant because it was the largest one of its kind done in North America.
	healthlink.mcw.edu /article/1031002457.html (738 words)

	Hereditary spherocytosis - erythrocyte osmotic fragility + hereditary spherocytosis (Site not responding. Last check: 2007-11-01)
		Hereditary spherocytosis - erythrocyte osmotic fragility + hereditary spherocytosis
		Hereditary spherocytosis is a genetic disorder of the red blood cells (called "erythrocytes") that makes them less flexible and, therefore, more prone to hemolysis.
		In peripheral blood smears, erythrocyte osmotic fragility + hereditary spherocytosis many of the red blood cells will appear abnormally small and will lack the hereditary spherocytosis central pallor (lighter area in the middle of a RBC when it is seen under a microscope).
	www.medicalgeo.com /Med-Diseases-H---Hi/Hereditary-spherocytosis.html (402 words)

	Hereditary Spherocytosis (HS)
		Hereditary Spherocytosis, also known as Minkowsky-Chauffard disease, is a relatively common inherited haemolytic anaemia with a prevalence estimated at 1 in 5000 in the UK and 1 in 2000 in the USA.
		Hereditary spherocytosis is a dominant autosomal inherited disorder with 50% of siblings and offspring affected.
		It is thought that the principle mutation is in the membrane protein ankyrin gene or in the protein band 3 gene.
	www.nursesnetwork.co.uk /medicine/generalmed/02_06_02sphero.shtml (1102 words)

	eMedicine - Spherocytosis, Hereditary : Article by Gus Gonzalez, MD
		Autoimmune hemolytic anemia also may produce spherocytosis, which usually can be excluded by negative findings on a direct antiglobulin test.
		Agre P, Asimos A, Casella JF, McMillan C: Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis.
		Hassoun H, Vassiliadis JN, Murray J, et al: Hereditary spherocytosis with spectrin deficiency due to an unstable truncated beta spectrin.
	www.emedicine.com /med/topic2147.htm (3916 words)

	spherocytosis (Site not responding. Last check: 2007-11-01)
		Spherocytosis is a disease of abnormal shaped red blood cell (RBC).
		RBC's from spherocytosis patients have altered membrane and cytoskeletal structure.
		In hereditary spherocytosis, there is a lack of epctrin, a key RBC cytoskeletal protein.
	www.sp.uconn.edu /~knecht/mcb210/spherocytosis.html (94 words)

	IngentaConnect INCIDENCE OF HEREDITARY SPHEROCYTOSIS IN A POPULATION OF JAUNDICE... (Site not responding. Last check: 2007-11-01)
		IngentaConnect INCIDENCE OF HEREDITARY SPHEROCYTOSIS IN A POPULATION OF JAUNDICE...
		INCIDENCE OF HEREDITARY SPHEROCYTOSIS IN A POPULATION OF JAUNDICED NEONATES
		Acquired spherocytosis of immune origin was diagnosed in 19/23 and hereditary spherocytosis in 4, making the proportion of hereditary spherocytosis-affected individuals among a severely jaundiced population of neonates amount to 1%, an incidence at least 30-fold that of the overall population.
	www.ingentaconnect.com /content/tandf/upho/2006/00000023/00000005/art00003 (277 words)

	Pregnancy complicated by hereditary spherocytosis -- Maberry et al. 79 (5): 735 -- Obstetrics & Gynecology (Site not responding. Last check: 2007-11-01)
		Pregnancy complicated by hereditary spherocytosis -- Maberry et al.
		Hereditary spherocytosis is a spectrum of inherited erythrocyte membrane defects that result in hemolysis and varying degrees of anemia.
		Among 50 pregnancies in 23 women with spherocytosis, maternal complications were infrequent except for anemia, and perinatal outcomes were generally good.
	www.greenjournal.org /cgi/content/abstract/79/5/735 (139 words)

	spherocytosis and gallbladder
		Spherocytosis is an inherited disorder in whcih the red cells have an abnormal shape leading to shortened survival.
		As a consequence of the more rapid breakdown of red cells, patients may have slight anemia and can developp gall stones (bilirubin stones).
		If you are concerned that you might have spherocytosis, ask your physician to do the blood tests to confirm the diagnosis.
	www.medhelp.org /forums/gastro/archive/4349.html (295 words)

	Partial Splenic Embolization for the Treatment of Hereditary Spherocytosis -- Kimura et al. 181 (4): 1021 -- American ...
		to splenectomy in the treatment of hereditary spherocytosis.
		We explored this procedure in patients with hereditary spherocytosis.
		to control hemolysis in patients with hereditary spherocytosis [8].
	www.ajronline.org /cgi/content/full/181/4/1021 (1919 words)

	health.iafrica.com \| doc online \| ask the doctor \| blood diseases Spherocytosis
		My wife had her spleen removed at the age of ten, because she had spherocytosis.
		Spherocytosis is the most common hereditary blood disease that causes haemolysis (breakdown) of red blood cells.
		It is inherited in an autosomal variable manner, meaning that 25% to 50% of children born to a parent with the gene, will be affected.
	health.iafrica.com /doconline/qa/blood/spherocytosis.htm (445 words)

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