,, 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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hereditary elliptocytosis – Wikidata
Elliptocytosis is often harmless. Patients should be monitored during events known to precipitate hemolysis. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions.
Surgery to remove the spleen may decrease the rate of red blood cell damage. Differential diagnosis Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i. Specialised Social Services Eurordis directory. Check this box if you wish to receive a copy of your message. In the most severe variants, folic acid, red cell transfusion and splenectomy after the age of 5 may be required. Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i.
Complications that can occur due to severe anemia include growth retardation, frontal bossing, marked splenomegaly and early gallbladder disease. HE can present at any age and the clinical picture is heterogeneous. Only comments written in English can be processed. 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
This is more like to happen when they have a viral infection. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
Eliptocigosis information Professionals Summary information Suomipdf Polskipdf.
Disease definition Hereditary elliptocytosis HE is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from eliptocitlsis to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic. Links to other sites are provided for information only — they do not constitute endorsements of those other sites.
Health care resources for this disease Expert centres Diagnostic tests 14 Patient organisations 16 Orphan drug s 0. Genetic counseling All HE variants, apart from HPP inherited autosomal recessivelyfollow an hereditatia dominant pattern of inheritance and genetic counseling is possible.
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. Genetic counseling may be appropriate for people with a family history of this disease who wish to become parents.
Review provided by VeriMed Healthcare Network. 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. Imaging of the gallbladder eliptoitosis show 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.
The following test results may help diagnose the condition: 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. An exam by your health care provider may show an enlarged spleen. The documents contained in this web site are presented for information purposes only.
Since HE is very rarely life threatening, antenatal diagnosis is not necessary, except for HPP cases, where screening for low expression polymorphism i. Nelson Textbook of Pediatrics. Hydrops fetalis see this term may be seen in rare cases. Antenatal diagnosis Since HE is very heteditaria life threatening, antenatal diagnosis is not necessary, except for HPP cases, where screening for low expression polymorphism i.
Heterozygous mutations usually result in common HE.
Clinical description HE can present at any age and the clinical picture is heterogeneous. The HPP variant is characterized by severe, transfusion-dependent hemolytic anemia with onset in infancy and that can also manifest with neonatal jaundice. It is similar to other blood conditions such as hereditary spherocytosis and hereditary herediyaria.
The genes involved in HE are: Elliptocytosis affects about 1 in every 2, people of northern European heritage. The mean corpuscular volume in HPP is of fL and marked poikilocytosis and red cell fragmentation is present.
Goldman L, Schafer AI, eds. Other search option s Alphabetical list. 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. Management and treatment In most cases treatment is not necessary. Red blood cell membrane disorders.
However, some people may have crises in which the red blood cells rupture. Call your provider if you have jaundice that does not go away or symptoms of anemia or gallstones.
Summary and related texts. All HE variants, apart from HPP inherited autosomal recessivelyfollow an autosomal dominant pattern of inheritance and genetic counseling is possible. Blood smear may show elliptical red blood cells.