ELIPTOCITOSIS HEREDITARIA PDF

,, en niños fundamentos “plano” (isoeléctrico) Electromiograma Electroshock Eliptocitosis hereditaria Embarazo La ovalocitosis hereditaria es una afección poco común que se transmite de Es una forma de eliptocitosis hereditaria. Ovalocitosis de tipo hereditario. enwiki Hereditary elliptocytosis; eswiki Eliptocitosis hereditaria; fawiki الیپتوسیتوز; frwiki Elliptocytose héréditaire; itwiki Ellissocitosi ereditaria; shwiki.

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Prognosis In the majority of cases HE is not life threatening and has no effect on life expectancy. Summary and related texts. There is no treatment needed for the disorder unless severe anemia or anemia symptoms occur. Clinical description HE can present at any age and the clinical picture is heterogeneous. The following test results hereditraia help diagnose the condition: Elliptocytosis affects about 1 in every 2, people of northern European heritage.

Check this box if you wish to receive a copy of your message. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. In the most severe variants, folic acid, red cell transfusion and splenectomy after the age of 5 may be required.

People with this disease can develop anemia, jaundice, and gallstones. Other search option s Alphabetical list.

File:Hereditary elliptocytosis.jpg

Etiology HE is caused by eljptocitosis of proteins involved in the red cell membrane horizontal skeletal network including the spectrin dimer-dimer interaction or the spectrin-actin-protein 4. Blood smear may show elliptical red blood cells. Bilirubin level may be high.

Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i. Imaging of the gallbladder may show gallstones. Disease definition Hereditary elliptocytosis HE is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations eljptocitosis from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.

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All HE variants, apart from HPP inherited autosomal recessivelyfollow an autosomal dominant pattern of inheritance heredotaria genetic counseling is possible. Hereditary elliptocytosis is a disorder passed down through families in which the red blood cells are abnormally shaped. Red blood cell membrane disorders.

Ovalocitosis hereditaria by Vanessa Aristizabal on Prezi

This is more like to happen when they have a viral infection. Most people with hereditary elliptocytosis have no problems. Elliptocytosis is often harmless. You are more eliptocutosis to develop this condition if someone in your family has had it. Since HE is very rarely life threatening, antenatal diagnosis is not necessary, except for HPP cases, where screening for low expression polymorphism i.

Transient poikilocytosis may also occur during infections or pregnancy, leading to hemolytic anemia in previously asymptomatic patients. The mean corpuscular volume in HPP is of fL and marked poikilocytosis and red cell fragmentation is present.

Diagnostic methods The laboratory hallmark of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and fragmented cells on peripheral blood smears. Surgery to remove the spleen may decrease the rate of red blood cell damage.

However, some people may have crises in which the red blood cells rupture. A neonatal poikilocytic HE variant may be severe during the first year of life but afterwards from 4 months-2 years hemolysis declines and the phenotype becomes that of common HE. The laboratory hallmark of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and fragmented cells on peripheral blood smears.

Fatigue Shortness of breath Yellow skin and eyes jaundice. The HPP variant is characterized by severe, transfusion-dependent hemolytic anemia with onset in infancy and that can also manifest with neonatal jaundice.

Differential diagnosis Differential diagnoses eliptocitosie other acquired causes of elliptocytic or fragmented red cells i. Antenatal diagnosis Since HE is very rarely life threatening, antenatal diagnosis is not necessary, except for HPP cases, where screening for low expression polymorphism i. Complete blood count CBC may show anemia or signs of red blood cell destruction. Aplastic crisis, brought on by a Parvovirus B19 infection, may occur in some cases.

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The genes involved in HE are: Genetic counseling All HE variants, apart from HPP inherited autosomal recessivelyfollow an autosomal dominant pattern of inheritance and genetic counseling is possible. The material is in no way intended to replace professional medical care by a qualified specialist and hereditaeia not be used as a basis for diagnosis or treatment.

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File:Hereditary – Wikimedia Commons

Call your provider if you have jaundice that does not go away or symptoms of anemia or gallstones. Hereditary elliptocytosis HE is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.

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Detailed information Professionals Summary information Suomipdf Polskipdf. HE can present at any age and the clinical picture is heterogeneous.

Patients should be monitored during events known to precipitate hemolysis. It is more common in people of African and Mediterranean descent. They often do not eliptociyosis they have the condition. Review provided by VeriMed Healthcare Network.

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