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Topic: Hereditary disorder

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	Blood disorder - The basics of Hemochromatosis: Always-Health.com (Site not responding. Last check: 2007-11-04)
		Hereditary hemochromatosis is an autosomal recessive blood disorder associated with increased intestinal absorption of iron and deposition of excessive amounts of iron in the vital organs of the body like the liver, pancreas, and other organs.
		Among US white population, this disorder is the most common single-gene disorder with approximately one in every 250 to 300 white persons is susceptible for the hemochromatosis gene mutation, and at least one in 10 persons is a carrier for the mutation.
		Hereditary hemochromatosis is a hereditary health disorder which is passed from parents to children through the HFE gene whose sole responsibility is to make the body store too much iron.
	www.always-health.com /BloodDisorders4.html (759 words)

	Hereditary Hemochromatosis -- Brennan Scott, M.D.
		Initially thought to be a disease of the blood (hence hemo), it was found in the early twentieth century to be a hereditary disorder of iron metabolism.
		Hereditary hemochromatosis is a disease of excess iron storage caused by increased intestinal absorption of ingested iron.
		Hereditary hemochromatosis, occasionally referred to as "bronze diabetes," is the most common genetic disorder among Caucasians of European descent.
	www.pamf.org /health/toyourhealth/hemochromatosis.html (1669 words)

	Coagulation disorders
		One in 500,000 people may be afflicted with this disorder that is often diagnosed in newborns because of bleeding into the brain as a result of traumatic delivery.
		DIC is not a hereditary disorder or a common one.
		The disorder may also be evident as blood in vomit or stools, bleeding during surgery, or heavy menstrual flow in women.
	www.lifesteps.com /gm/Atoz/ency/coagulation_disorders.jsp (2761 words)

	Hereditary Fructose Intolerance \| AHealthyMe.com
		Hereditary fructose intolerance is an inherited condition where the body does not produce the chemical needed to break down fructose (fruit sugar).
		Fructose intolerance is a disorder caused by the body's inability to produce an enzyme called aldolase B (also called fructose 1-phosphate aldolase) that is necessary for absorption of fructose.
		Since this is a hereditary disorder, there is currently no known way to prevent it other than assisting at-risk individuals with family planning and reproductive decisions.
	www.ahealthyme.com /topic/topic100586932 (703 words)

	Hereditary Hemochromatosis
		Someone with hereditary hemochromatosis who has never taken an iron supplement could find out in later years that iron overload is causing serious health problems.
		Hereditary hemochromatosis is an autosomal recessive disorder caused by a mutation on a gene that regulates iron absorption.
		In these people, hereditary hemochromatosis may be triggered by a precipitating factor, such as hepatitis (inflammation of the liver) or alcohol abuse.
	www.kidshealth.org /parent/general/aches/hh.html (1494 words)

	NORD - Anemia, Hereditary Spherocytic Hemolytic
		Hereditary Spherocytic Hemolytic Anemia is a rare blood disorder characterized by defects within red blood cells (intracorpuscular) that result in a shortened survival time for these cells.
		In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease.
		Hereditary Nonspherocytic Hemolytic Anemia is a group of rare inherited blood disorders characterized by defective red blood cells that are not sphere-shaped.
	www.indwes.edu /Faculty/bcupp/things/Blood/HereditarySpherocyticHemolyticAnemia.html (1955 words)

	Skin Disorder Hereditary To Quarter Horses Facts And Resource (Site not responding. Last check: 2007-11-04)
		Hereditary equine regional dermal Athena is an inherited skin disorder seen in the American quarter horse primarily affects quarter horses.
		The epidermises bulls syndromes are a group of congenital and hereditary a mechanically disorder that is caused.
		Heda, hereditary equine regional dermal Athena, causes the skin on a was the first equine disorder to be identified with to determine the prevalence of gibed in quarter horses.
	www.gallanthorses.info /skin-disorder-hereditary-to-quarter-horses.html (928 words)

	Genetic Verses Hereditary (Site not responding. Last check: 2007-11-04)
		the fact that, generally, we assume that because a disorder is said to be "genetic" that it is "hereditary"...
		In less than 1% of cases is DS considered "hereditary" - and for that to happen of course, the parents would have had to have the "genetic mutation" themselves.
		To call something "hereditary" because the offspring received a mutated gene from the parents does not mean that "the original mutation" was "hereditary" also...
	www.autismhelpforyou.com /genetic_verses_hereditary.htm (1648 words)

	eMedicine - Spherocytosis, Hereditary : Article 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.
		Given that the incidence of HS in the United States is 1 case in 5000 people and that approximately 25% of all HS is autosomal recessive, calculations indicate that the HS silent carrier state might exist in 1.4% of the population.
		HS usually is transmitted as an autosomal dominant trait, and the identification of the disorder in multiple generations of affected families is the rule.
	www.emedicine.com /med/topic2147.htm (3916 words)

	Genomics\|Genetic Testing\|FBR\|HH\|Disorder Setting
		The specific clinical disorder is primary iron overload of adult onset sufficient to cause significant morbidity and mortality.
		The original clinical diagnosis of hereditary hemochromatosis was based on the triad of hepatic cirrhosis, diabetes mellitus, and skin pigmentation.
		Subsequently, it was shown that the iron deposition in HC is due to excessive absorption of iron from the gastrointestinal tract (Powell et al., 1975; Valberg et al., 1980).
	www.cdc.gov /genomics/gtesting/ACCE/FBR/HH/HHDisSet.htm (3558 words)

	Rare hereditary disorder blamed on consanguinity identified in four Jordanian villages
		Rare hereditary disorder blamed on consanguinity identified in four Jordanian villages
		AMMAN — A newly-discovered hereditary neurological disorder, which renders its victims partially paralysed, has been identified in four villages in the northern part of the Kingdom, where marriages among relatives remains a common practice.
		A team of Jordanian and Cypriot doctors identified a rare hereditary disorder last year in the northern part of the Kingdom, which they blamed on consanguinity.
	www.jordanembassyus.org /03132000002.htm (1038 words)

	\|\| DukeMedNews \|\| Genetic Basis of Hereditary Nerve Disorder Revealed
		DURHAM, N.C. -- A major form of one of the most prevalent inherited neurological disorders in humans, Charcot-Marie-Tooth disease (CMT), stems from an abnormality in the cellular powerhouses, or mitochondria, that fuel the nerves required for muscle control, suggests new findings by neurogeneticists at the Duke Center for Human Genetics and their international colleagues.
		In seven families with a form of the degenerative nerve disorder CMT type 2A, the team discovered that defects in a gene critical to mitochondrial movement, known as mitofusin 2, underlies the disease symptoms.
		Restoring the lost gene function through gene therapy might ultimately serve as an effective treatment for the disorder, which currently has no cure, the researchers reported in the April 4, 2004, issue of Nature Genetics.
	www.dukemednews.org /news/article.php?id=7495 (717 words)

	Genetic disorder - Wikipedia, the free encyclopedia
		Several hereditary diseases are sex-linked, meaning that they afflict one sex much more commonly than the other because the mutation is located on the X (or, rarely, on the Y) chromosome.
		X-linked recessive disorders are also caused by mutations in genes on the X chromosome.
		The study of genetic diseases is a large scientific discipline, whose theoretical underpinning is based on Population genetics.
	en.wikipedia.org /wiki/Genetic_disorder (1406 words)

	Angioedema, Hereditary
		Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of the accumulation of fluids outside of the blood vessels, blocking the normal flow of blood or lymphatic fluid and causing rapid swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway.
		The most common form of the disorder is hereditary angioedema type I, which is the result of abnormally low levels of certain complex proteins in the blood (C1 esterase inhibitors), known as complements.
		Hereditary angioedema type II, a more uncommon form of the disorder, occurs as the result of the production of abnormal complement proteins.
	www.webmd.com /hw/allergies/nord98.asp (531 words)

	Sickle Cell Disease - disease information
		Sickle Cell Disease is a hereditary blood disorder that affects the oxygen-carrying component of blood, the red blood cell.
		As sickle cell is a genetic disorder, anyone whose parent has the gene for sickle cell disease has the chance of at least having sickle cell trait.
		As sickle cell disease is a genetic disorder, anyone whose parent has the gene for sickle cell disease has the chance of at least having sickle cell trait.
	www.mckinley.uiuc.edu /Handouts/sickle_cell_disease.html (1038 words)

	News Release: Evidence of a New Hereditary Joint Disorder
		Over the years, MM1 was misdiagnosed with various disorders, including Osgood-Schlatter disease, Legg-Calvé-Perthes disease, and spondylo-epiphyseal dysplasia.
		But what made his case clinically compelling was his children.
		To the research team, this suggested a terribly destructive joint disease with a strong hereditary component.
	www.rheumatology.org /press/2005/debonding1005.asp (522 words)

	Earliest evidence of hereditary genetic disorder discovered by Hebrew University researchers
		The researchers are Dr. Uri Zilberman and Patricia Smith, the Joel Wilbush Professor of Medical Anthropology, both of the Faculty of Dental Medicine of the Hebrew University and Dr. Silvana Condemi a senior researcher at the French Research Institute in Jerusalem.
		According to Dr.Zilberman, this is the first recorded evidence from such an early prehistoric period of a hereditary disorder in which the specific genes responsible have been identified.
		Amelogenesis imperfecta is a hereditary disorder that manifests itself in tooth enamel that is abnormal in structure, low in mineral content and hence subject to rapid wear and chipping.
	www.eurekalert.org /pub_releases/2004-06/huoj-eeo062804.php (330 words)

	Links to information on Genetic Hereditary Hemochromatosis
		Hereditary hemochromatosis - disorder in which the body stores excess iron which causes damage to organs if untreated.
		Hereditary hemochromatosis (HH), also known as iron overload disease, iron storage disease, "genetic iron poisoning", and the "Celtic Curse", is the most common genetic disease in the USA according to the Centers for Disease Control and Prevention (CDC).
		Genetic testing can confirm a diagnosis of HFE-associated hereditary hemochromatosis (genetic iron overload) or it can show that the patient is at risk in the future for developing it thereby giving the patient the opportunity to take preventive measures such as diet adjustment and blood donation.
	globalcrisis.info /hemochromatosis.html (1283 words)

	Genomics\|Genetic Testing\|FBR\|VTE\|Disorder Setting
		The disorder being considered in this review is an episode of recurrent venous thrombosis in adults with an inherited clotting disorder.
		As an example, 50 percent of thrombotic events in patients with hereditary causes are associated with an acquired risk factor such as surgery, pregnancy, or oral contraceptives.
		The presence of an hereditary cause may affect the management of individuals with venous thrombosis.
	www.cdc.gov /genomics/gtesting/ACCE/FBR/VTE/VTEDisSet.htm (2336 words)

	A hereditary bleeding disorder of dogs caused by a lack of platelet procoagulant activity -- Brooks et al. 99 (7): 2434 ...
		A hereditary bleeding disorder of dogs caused by a lack of platelet procoagulant activity -- Brooks et al.
		The complex of phosphatidylinositol 4,5-bisphosphate and calcium ions is not responsible for Ca(2+)-induced loss of phospholipid asymmetry in the human erythrocyte: a study in Scott syndrome, a disorder of calcium-induced phospholipid scrambling.
		Scott syndrome, characterized by impaired transmembrane migration of procoagulant phosphatidylserine and hemorrhagic complications, is an inherited disorder.
	www.bloodjournal.org /cgi/content/full/99/7/2434 (5574 words)

	Howstuffworks "Hemophilia: A Profile of a Hereditary Bleeding Disorder"
		Hemophilia is a sex-linked hereditary bleeding disorder in which the clotting mechanism of the blood does not function properly.
		Hemophilia is inherited as a sex-linked recessive trait -- a woman can pass on the defective gene for the trait without being affected herself.
		The gene that causes the disorder appears on the X chromosome, which is the female sex chromosome.
	health.howstuffworks.com /define-hemophilia.htm (976 words)

	Evidence of a new hereditary joint disorder (Site not responding. Last check: 2007-11-04)
		While characteristic of osteoarthritis (OA), a degenerative joint disease that affects some 20 million Americans, cartilage erosion and bone abnormalities are also associated with many rare hereditary conditions.
		To gain a clearer sense of this syndrome's distinctive signs, the researchers examined blood samples of both the affected family members and unaffected relatives - MM1's parents and 4 siblings - for single nucleotide polymorphisms (SNPs) in the chromosome 2 region which are known to influence bone and cartilage development.
		For any corrections of factual information, or to contact the editors please use our feedback form.
	www.pharma-lexicon.com /medicalnews.php?newsid=31417 (561 words)

	Gene Links Hereditary Intestinal Disorder with Stroke Danger - Dukehealth.org
		Although anecdotal evidence had indicated that some patients with juvenile polyposis also exhibit vascular anomalies, the current study is the first to clearly define the relationship between the intestinal disorder and HHT, said the researchers.
		The team then screened the samples for mutations in the genes known to cause one or the other disorder.
		Research study on a new investigational drug for the treatment of diabetes.
	www.dukehealth.org /news/7458 (686 words)

	Phenylketonuria Research: Genetics, Causes, Symptoms, Hereditary Disorder
		Mutations in PCD or its deactivation by hydrogen peroxide result in the generation of 7(R,S)BH4, which is a potent inhibitor of PAH that has been implicated in primapterinuria, a variant form of phenylketonuria, and in the skin depigmentation disorder vitiligo.
		In the UK, for patients with inherited metabolic disorders (IMD) the traditional system for acquiring essential dietary products [patient prompted prescriptions generated by a medical general practitioner (GP) and dispensed by a chemist] is problematic.
		The following disorders are discussed in this revision of the newborn screening fact sheets: biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital...
	phenylketonuria.researchtoday.net (804 words)

	Bipolar Disorder and heredity
		Research, specifically family studies, have repeatedly shown that first degree relatives (IE: parents and siblings) with bipolar disorder are eight or to eighteen times more likely to have the disorder when compared to those without a family history.
		If one parent has bipolar disorder, there is a 25% chance that a child will have a mood problem.
		If both parents have bipolar disorder then there is a 50-75% chance that a child will have a mood problem (disorder).
	www.medhelp.org /forums/mentalhealth/archive/211.html (351 words)

	Nosebleeds May Signal Rare Hereditary Disorder That Attacks Multiple Organs and Leads to Strokes
		When epistaxis or nosebleeds occur in multiple members of one family, they are an important clue to a genetic disorder of the blood vessels called Hereditary Hemorrhagic Telangiectasia (HHT) that can lead to strokes and other symptoms, Yale researchers report in two new studies.
		HHT or Rendu-Osler-Weber Syndrome affects 1 in 10,000 people and is inherited by autosomal dominance, which means there is a 50 percent chance of each child inheriting the disorder from a parent affected by HHT.
		Within the same family, HHT patients can have a variety of symptoms, including arteriovenous malformations (AVMs), which are direct connections between arteries and veins that lack the capillaries necessary to connect these blood vessels.
	www.charitywire.com /charity285/05478.html (683 words)

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