,, 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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Differential diagnosis Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i. The laboratory hallmark of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and fragmented cells on peripheral blood smears.
The documents contained in this web site are presented for information purposes only. Transient poikilocytosis may also occur during infections or pregnancy, leading to hemolytic anemia in previously asymptomatic patients. May continue for a long time in a newborn. Links to other sites are provided for information only — they do not constitute endorsements of those other sites. Only comments written in English can be processed.
An exam by your health care provider may show an enlarged spleen.
Call your provider if you have jaundice that does not go away or symptoms of anemia or gallstones. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.
Imaging of the gallbladder may show gallstones. Any duplication or distribution of the information contained herein is strictly prohibited.
Genetic counseling All HE variants, apart from HPP inherited autosomal recessivelyfollow an autosomal dominant pattern of inheritance and genetic counseling is possible. Hereditary elliptocytosis is a disorder passed down through families in which the red blood cells are abnormally shaped. Aplastic crisis, brought heredigaria by a Parvovirus B19 infection, may occur in some cases.
Prognosis In the majority of cases HE is not life threatening and has no effect on life expectancy. In the most heredtaria variants, folic acid, red cell transfusion and splenectomy after the age of 5 may be required.
Genetic mutation analysis can identify causal mutations, confirming diagnosis. Specialised Social Services Eurordis directory. Summary and related hdreditaria. Review provided by VeriMed Healthcare Network.
Ovalocitosis hereditaria by Vanessa Aristizabal on Prezi
Clinical description HE can present at any age and the clinical picture is heterogeneous. Diagnostic methods The laboratory hallmark of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and fragmented cells on peripheral blood smears. You are more likely to develop this condition if someone in your family has had it. Red blood cell membrane disorders. Genetic counseling may be appropriate for people with epiptocitosis family history of this disease who wish to become parents.
Heterozygous mutations usually result in common HE. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used eliptocitosks a basis for diagnosis or treatment. 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.
Health care resources for this disease Expert centres Diagnostic tests 14 Eliptocitksis organisations 16 Orphan drug s 0. There is no treatment needed for the disorder unless severe anemia or anemia symptoms occur.
Most have common HE, which is mainly asymptomatic or which can present with mild hemolytic anemia as well as jaundice, splenomegaly and gallstones. People with this disease can develop anemia, jaundice, and gallstones. Fatigue Shortness of breath Yellow skin and eyes jaundice. Heresitaria L, Schafer AI, eds.
File:Hereditary – Wikimedia Commons
They often do not know they have the condition. It is similar to other blood conditions such as hereditary spherocytosis and hereditary ovalocystosis. The mean corpuscular volume in HPP is of fL and marked poikilocytosis and red cell fragmentation is present. Since HE is very rarely life threatening, antenatal diagnosis is not necessary, rliptocitosis for HPP cases, where screening for low expression polymorphism i.
This is more like to happen when they have a viral infection. Antenatal eliptocitodis Since HE is very rarely life threatening, antenatal diagnosis is not necessary, except for HPP cases, where screening for low expression polymorphism i. Patients should be monitored during events known to precipitate hemolysis. The following test results may help diagnose the condition: Hersditaria information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
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Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i. Surgery to remove the spleen may decrease the rate of red blood cell damage. Disease definition 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 eliptoocitosis.
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. In most cases treatment is not necessary. Nelson Textbook of Pediatrics. Lactate dehydrogenase level may be high. For all other comments, please send your remarks via contact us.