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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HE is caused by abnormalities of proteins involved in the red hereditarua membrane horizontal skeletal network including the spectrin dimer-dimer interaction or the spectrin-actin-protein 4.

Differential diagnosis Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i. 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 eluptocitosis abnormally shaped.

Elliptocytosis is often harmless. Red blood cell membrane disorders. This is more like to happen when they have a viral infection.

The HPP variant is characterized by severe, transfusion-dependent hemolytic anemia with onset in infancy and that can also manifest with neonatal jaundice. The documents contained in this web site are presented for information purposes only. Elliptocytosis affects about 1 in every 2, people of northern European heritage. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

In most cases treatment is not necessary. For all other comments, please send your remarks via contact us.

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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 following test results may help diagnose the condition: Nelson Textbook of Pediatrics.

May continue for a long time in a newborn. Specialised Social Services Eurordis directory. HE can present at any age and the clinical picture is heterogeneous.

Heterozygous mutations usually result in common HE. 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. There is no treatment needed for the disorder unless severe anemia or anemia symptoms occur. Only comments written in English can be processed. Summary and related texts.

eliptocitozis

Detailed information Professionals Summary information Suomipdf Polskipdf. Most people with hereditary elliptocytosis have no problems. However, some people may have crises in which the red blood cells rupture. An exam by your health care provider may show an enlarged spleen. Complete blood count CBC may show anemia or signs of red blood cell destruction. Basic Principles and Practice. Goldman L, Schafer AI, eds. 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.

Since HE is very rarely life threatening, eliptocitosiz diagnosis is not necessary, except for Eliptocitosks cases, where screening for low expression polymorphism i. Lactate dehydrogenase level may be high.

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File:Hereditary elliptocytosis.jpg

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. Hydrops fetalis see this term may be seen in rare cases. Complications that can occur due to severe anemia include growth retardation, frontal bossing, marked splenomegaly and early gallbladder disease. 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.

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Hereditary elliptocytosis

Prognosis In the majority of cases HE is not life threatening and has no effect on life expectancy. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions.

People with this disease can develop anemia, jaundice, and gallstones. Imaging of the gallbladder may show gallstones. Other search option s Alphabetical list. You are more likely to develop this condition if someone in your family has had it. The genes involved in HE are: All HE variants, apart from HPP inherited autosomal recessivelyfollow an autosomal dominant pattern of inheritance and genetic counseling is possible. Patients should hereditaroa monitored during events known to precipitate hemolysis.

HPP is also due to the presence of one alpha-spectrin mutation in trans to a low-expression alpha-spectrin allele alpha-LELY.