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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Diagnostic methods The laboratory hallmark of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and fragmented cells on peripheral blood smears. It is similar to other blood conditions such as eliltocitosis spherocytosis and hereditary ovalocystosis. The HPP variant is characterized by severe, transfusion-dependent hereditadia anemia with onset in infancy and that can also manifest with neonatal jaundice. Imaging of the gallbladder may show gallstones.

Blood smear may show elliptical red blood cells.

hereditary elliptocytosis – Wikidata

People with this disease can develop anemia, jaundice, and gallstones. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. Patients should be monitored during events known to precipitate hemolysis. Call your provider if you have jaundice that does not go away or symptoms of anemia or gallstones. Detailed information Professionals Heredtiaria information Suomipdf Polskipdf. Check this box if you wish to receive a copy of your message.

Herediharia all other comments, please send your remarks via contact heredltaria. 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.

Ovalocitosis hereditaria by Vanessa Aristizabal on Prezi

The documents contained in this web site are presented for information purposes only. The mean corpuscular volume in HPP is of fL and marked poikilocytosis and red cell fragmentation is present. This is more like to happen when they have a viral infection.

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Elliptocytosis is often harmless. Complications that can occur due to severe anemia include growth retardation, frontal bossing, marked splenomegaly and early gallbladder disease. Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i.

Goldman L, Schafer AI, eds. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. The genes involved in HE are: Most have common HE, which is mainly asymptomatic or which can present with mild hemolytic anemia as well as jaundice, splenomegaly and gallstones. Management and treatment In most cases treatment is not necessary. Genetic counseling All HE variants, apart from HPP inherited autosomal recessivelyfollow an autosomal dominant pattern of inheritance and genetic counseling is possible.

It is more common in people of African and Mediterranean descent. Transient poikilocytosis may also occur during infections or pregnancy, leading to hemolytic anemia in previously asymptomatic patients. In most cases treatment is not necessary.

Nelson Textbook of Pediatrics. All HE variants, apart from HPP inherited autosomal recessivelyfollow an autosomal dominant pattern of inheritance and genetic counseling is possible. Hereditariz affects about 1 in every 2, people of northern European heritage. Lactate dehydrogenase level may be high. Links to other sites are provided for information only — they do not constitute endorsements of those other sites.

Bilirubin level may heredittaria high. However, some people may have crises in which the red blood cells rupture.

Hydrops fetalis see this term may be seen in rare cases. An exam by your health care provider may show an enlarged spleen.

Since HE is very rarely life threatening, antenatal diagnosis is not necessary, except for HPP cases, where screening for low expression polymorphism i. Aplastic crisis, brought on by a Parvovirus B19 infection, may occur in some cases.

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Hereditary elliptocytosis HE is a rare clinically and eliptoocitosis 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.

Genetic mutation analysis can identify causal mutations, confirming diagnosis. 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. Clinical description HE can present at any age and the clinical picture is heterogeneous. Surgery to remove the spleen may decrease the rate of red blood cell damage. Most people with hereditary elliptocytosis have no problems.

Only comments written in English can be processed. Summary and related texts. There is no treatment needed for the disorder unless severe anemia or anemia symptoms occur. They often do not know they have the condition.

Basic Principles and Practice.

File:Hereditary elliptocytosis.jpg

Antenatal diagnosis Since HE is very rarely life threatening, antenatal diagnosis is not necessary, except for Yereditaria cases, where screening for low expression polymorphism i. Heterozygous mutations usually result in common HE. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Prognosis In the majority of cases HE is not life threatening and has no effect on life expectancy.