,, 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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Nelson Textbook of Pediatrics. Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i. 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. Fatigue Eliptkcitosis of breath Yellow skin and eyes jaundice. Health care resources for this disease Expert centres Diagnostic tests 14 Patient organisations 16 Orphan drug s 0.
Other search option s Alphabetical list. Most have common HE, which is mainly asymptomatic or which can present with mild hemolytic anemia as well as jaundice, splenomegaly and gallstones. Heterozygous mutations usually result in common HE.
For all other eliptocitoxis, please send your remarks via contact us. They often do not know they have the condition. Bilirubin level may be high. Check this box if you wish to receive a copy of your message. 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.
Goldman L, Schafer AI, eds. Links to other sites are provided for information only — they do not constitute endorsements of those other sites. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. The eliptocittosis involved in HE are: Summary and related texts. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical herevitaria.
Hereditary elliptocytosis is a disorder passed down through families in which the red blood cells are abnormally shaped.
File:Hereditary – Wikimedia Commons
May continue for a long time in a newborn. Aplastic crisis, brought on by a Parvovirus B19 infection, may occur in some cases. There is no treatment needed for the disorder unless severe anemia or anemia symptoms occur.
Specialised Social Services Eurordis directory. Diagnostic methods The laboratory hallmark of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and fragmented cells on peripheral blood smears.
This is more like to happen when they have a viral infection. Detailed information Professionals Summary information Suomipdf Polskipdf.
Clinical description HE can present at any age and the clinical picture is heterogeneous. Management and treatment In most cases treatment is not necessary.
All HE variants, apart from HPP inherited autosomal recessivelyfollow an autosomal dominant pattern of inheritance and genetic counseling is possible. Blood smear may hereditarix elliptical red blood cells. HE can present at any age and the clinical picture is heterogeneous. You are more likely to develop this condition if someone in hereditwria family has had it. Elliptocytosis is often harmless.
Imaging of the gallbladder elpitocitosis show gallstones. 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 jereditaria of patients being asymptomatic. It is more common in people of Eiptocitosis and Mediterranean descent.
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 hereditarai being asymptomatic.
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. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
HPP is also due to the presence of one alpha-spectrin mutation in trans to a low-expression alpha-spectrin allele alpha-LELY.
The mean corpuscular volume in HPP is of fL and marked poikilocytosis and red cell fragmentation is present.
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. Only comments written in English can be processed. 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. Patients should be monitored during events known to precipitate hemolysis.