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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HE can present at any age and the clinical picture is heterogeneous. Genetic mutation analysis can identify causal mutations, confirming diagnosis. The HPP variant is characterized by severe, transfusion-dependent hemolytic anemia with onset in infancy and that can also manifest with neonatal jaundice.

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. Call your provider if you have jaundice that does not go away or symptoms of anemia or gallstones.

This is more like to happen when they have a viral infection. Review provided by VeriMed Healthcare Network. In most cases treatment is not necessary. Hereditxria Textbook of Pediatrics.

Genetic counseling may be appropriate for people with a family history of this disease who wish to become parents. 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.

Patients should be monitored during events known to precipitate hemolysis. You are more likely to develop this condition if someone in your family has had it. May continue for a long time in a newborn. Complete blood count Herexitaria may show anemia or signs of red blood cell destruction.

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Hereditary elliptocytosis is a disorder passed down through families in which the red blood cells are abnormally shaped. Clinical description HE can present at any age and the clinical picture is heterogeneous. The laboratory hallmark of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and hereditaeia cells on peripheral blood smears.

Etiology HE is caused by abnormalities of proteins involved in the red cell membrane horizontal skeletal network including the spectrin dimer-dimer interaction or the spectrin-actin-protein 4. Fatigue Shortness of breath Yellow skin and eyes jaundice. Check this box if you wish to receive a copy of your message.

Bilirubin level may be high. Hydrops fetalis see this term may be seen in rare cases. There is no treatment needed for the disorder unless severe anemia or anemia symptoms occur.

Health care resources for this disease Expert centres Diagnostic tests 14 Patient organisations 16 Orphan drug s 0. The mean corpuscular volume in HPP is of fL and marked poikilocytosis and red cell fragmentation is present.

File:Hereditary elliptocytosis.jpg

Heterozygous mutations usually result in common HE. Transient poikilocytosis may also occur during infections or pregnancy, leading to hemolytic anemia in previously asymptomatic patients. Basic Principles and Practice.

Diagnostic methods The laboratory hallmark of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and fragmented cells on peripheral blood smears.

Ovalocitosis hereditaria by Vanessa Aristizabal on Prezi

The documents contained in this web site are presented for information purposes only. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Antenatal diagnosis Since HE is very rarely hreeditaria threatening, antenatal diagnosis is not necessary, except for HPP cases, where screening for low expression polymorphism i. It is similar to other blood conditions such as hereditary spherocytosis and hereditary ovalocystosis.

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Since HE is very rarely life threatening, antenatal diagnosis is not necessary, except for Hereditaia cases, where screening for low expression polymorphism i. Any duplication or distribution of the information contained herein is strictly prohibited.

Elliptocytosis affects about 1 in every herediyaria, people of northern European heritage. Elliptocytosis is often harmless. Summary and related texts. Imaging of the gallbladder may show gallstones. HE is caused by abnormalities of proteins involved in the red cell membrane horizontal skeletal network including the spectrin dimer-dimer interaction or the spectrin-actin-protein 4.

Surgery to remove the spleen may decrease the rate of red blood cell damage. The following test results may help diagnose the condition: All Hereditraia variants, apart from HPP inherited autosomal recessivelyfollow an autosomal dominant pattern of inheritance and genetic counseling is possible.

Management and treatment In most cases treatment is not necessary.