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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Any duplication or distribution of the information contained herein is strictly prohibited. Most have common HE, which is mainly asymptomatic or which can present with mild hemolytic anemia as well as jaundice, splenomegaly and gallstones.
The mean corpuscular volume in HPP is of fL and marked poikilocytosis and red cell fragmentation is present. Hereditary elliptocytosis is a disorder passed down through families in which the red blood cells are abnormally shaped. Genetic counseling may be appropriate for people with a family history of this disease who wish to become parents. 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.
An exam by your health care provider may show an enlarged spleen. For all other comments, please send your remarks via contact us. Heterozygous mutations usually result in common HE. There is no treatment needed for the disorder unless severe anemia or anemia symptoms occur.
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.
Summary and related texts. They often do not know they have the condition. Bilirubin level may be high. Patients should be monitored during events known to precipitate hemolysis. The HPP variant is characterized by severe, transfusion-dependent hemolytic anemia with onset in infancy and that can also manifest with neonatal jaundice.
Transient poikilocytosis may also occur during infections or pregnancy, leading to hemolytic anemia in previously asymptomatic patients. Most people with hereditary elliptocytosis have no problems. Aplastic crisis, brought on by a Parvovirus B19 infection, may occur in some cases.
This is more like to happen when they have a viral infection. Surgery to remove the spleen may decrease the rate of red blood cell damage. Imaging of the gallbladder may 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 majority of patients being asymptomatic. Elliptocytosis affects about 1 in every 2, people of hereditwria European heritage.
File:Hereditary – Wikimedia Commons
Complications that can occur due to severe anemia include growth retardation, frontal bossing, eilptocitosis splenomegaly and early gallbladder disease. Genetic mutation analysis can identify causal mutations, confirming diagnosis. You are more likely to develop this condition if someone in your family has had it.
Basic Principles and Practice. Call your provider if you have jaundice that does not go away or symptoms of anemia or gallstones. Hydrops fetalis see this term may be seen in rare cases. Prognosis In the majority of cases HE is not life threatening and has no effect on life expectancy.
May continue for a long time in a newborn. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. In the most severe variants, folic acid, red cell transfusion and splenectomy after the age of 5 may be required.
HPP is also due to the presence of one alpha-spectrin mutation in trans to a low-expression alpha-spectrin allele alpha-LELY. Detailed information Professionals Summary information Suomipdf Polskipdf. HE is caused by abnormalities of proteins involved in the red hereditqria membrane horizontal skeletal network including the spectrin dimer-dimer interaction or the spectrin-actin-protein 4.
However, some people may have crises in which the red blood cells rupture. Management and treatment In most cases treatment is not necessary.
Only comments written in English can be processed. Since HE is very rarely life threatening, antenatal diagnosis is not necessary, except for HPP cases, where screening for low expression polymorphism i. Fatigue Shortness of breath Yellow skin and eyes jaundice. 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.
Diagnostic methods The laboratory hallmark of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and fragmented cells on peripheral blood smears. HE can present at any age and the clinical picture is heterogeneous. It is similar to other blood conditions such as hereditary spherocytosis and hereditary ovalocystosis.
Links to other sites are provided for information only — they do not constitute endorsements of those other sites. Other search option s Alphabetical list. In most cases treatment is not necessary. Complete blood count CBC may show anemia or signs of red blood cell destruction.
Health care resources for this disease Expert centres Diagnostic tests 14 Patient organisations 16 Orphan drug s 0. Nelson Textbook of Pediatrics. Differential diagnosis Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i. Clinical description HE can present at any age and the clinical picture is heterogeneous.
Elliptocytosis is often harmless. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.