,, 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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Red blood cell membrane disorders. All HE variants, apart from HPP inherited autosomal recessivelyfollow an autosomal dominant pattern of inheritance and genetic counseling is possible.
Surgery to remove the spleen may decrease the rate of red blood cell damage. Patients should be monitored during events known to precipitate hemolysis. Hydrops fetalis see this term may hereditaira seen in rare cases. Complications hreditaria can occur due to severe anemia include growth retardation, frontal bossing, marked splenomegaly and early gallbladder disease.
In most cases treatment is not necessary. Links to other sites are provided for information only — they do not constitute endorsements of those other sites. Blood smear may show elliptical red blood cells.
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Only comments written in English can be processed. Specialised Social Services Eurordis directory. It is more common in people of African and Mediterranean descent. Clinical description HE can present at any age and the clinical picture is heterogeneous.
People with this disease can develop anemia, jaundice, and gallstones. Diagnostic methods The laboratory hallmark of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and fragmented cells on peripheral blood smears.
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.
Transient poikilocytosis may also occur during infections or pregnancy, leading to hemolytic anemia in previously asymptomatic patients. Any duplication or distribution of the information contained herein is strictly prohibited.
hereditqria Imaging of the gallbladder may show gallstones. Goldman L, Schafer AI, eds. Most people with hereditary elliptocytosis have no problems. Elliptocytosis affects about 1 in every 2, people of northern European heritage. 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. The following test results may help diagnose the condition: Lactate dehydrogenase level may be high.
Most have common HE, which is mainly asymptomatic or which can present with mild hemolytic anemia as well as jaundice, splenomegaly and gallstones. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions.
Only comments seeking to improve the quality and accuracy of information on the Orphanet eilptocitosis are accepted. For all other comments, please send your remarks via contact us. Eliptocitoais diagnoses include other acquired causes of elliptocytic or fragmented red cells i. 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.
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They often do not know they have the condition. Summary and related texts.
An exam by your health care provider may show an enlarged spleen. The mean corpuscular volume in HPP is of fL and marked poikilocytosis and red cell fragmentation is present. Fatigue Shortness of breath Yellow skin and eyes jaundice. The HPP variant is characterized by severe, transfusion-dependent hemolytic anemia with onset in infancy and that can also manifest with neonatal jaundice. Bilirubin level may be high.
Call your provider if you have jaundice that does not go away or symptoms of anemia or gallstones. Genetic counseling may be hsreditaria for people with eliptocitlsis family history of this disease who wish to become parents.
This is more like to happen when they have a viral infection. You are more likely to develop this condition if someone in your family has had it. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. There is no treatment needed for the disorder unless severe anemia or anemia symptoms occur. Aplastic crisis, brought on by a Parvovirus B19 infection, may occur in some cases.
HE can present at any age and the clinical picture is heterogeneous. Elliptocytosis is often harmless. 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 asymptomatic.
Genetic mutation analysis can identify causal mutations, confirming diagnosis. HPP is also due to the presence of one alpha-spectrin mutation in trans to a low-expression alpha-spectrin allele alpha-LELY. 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. The laboratory hallmark of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and fragmented cells on peripheral blood smears.
Detailed information Professionals Summary information Suomipdf Hereditarjapdf. Basic Principles and Practice. Complete blood count CBC may show anemia or signs of red blood cell destruction.