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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The genes involved in HE are: There is no treatment needed for the disorder unless severe anemia or anemia symptoms occur. Goldman L, Schafer AI, eds. Clinical description HE can present at any age and the clinical picture is heterogeneous. Call your provider if you have jaundice that does not go away or symptoms of anemia or gallstones.

Basic Principles and Practice. Bilirubin level may be high. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

Elliptocytosis is often harmless. The mean corpuscular volume in HPP is of fL and marked poikilocytosis and red cell fragmentation is present. Lactate dehydrogenase level may be high. However, some people may have crises in which the red blood cells rupture. Complications that can occur due to severe anemia include eliptocitowis retardation, frontal bossing, marked splenomegaly and early gallbladder disease.

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 autosomal dominant pattern of inheritance and genetic counseling is possible.

A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions.

May continue for a long time in a newborn. Prognosis In the majority of cases HE is not life threatening and has no effect on life expectancy. Detailed information Professionals Summary information Suomipdf Polskipdf.

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The laboratory hallmark of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and fragmented cells on peripheral blood smears.

Patients should be monitored during events known to precipitate hemolysis. Nelson Textbook of Pediatrics. Review provided by VeriMed Healthcare Network. It is more common in people of African and Mediterranean descent.

Summary and related texts. Hereditary elliptocytosis HE is a rare clinically and genetically heterogeneous disorder of the hereditarai cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.

Transient poikilocytosis may also occur during infections or pregnancy, leading to hemolytic anemia in previously asymptomatic patients. Specialised Social Services Eurordis directory. An exam by your health care provider may show an enlarged spleen.

Aplastic crisis, brought on by a Parvovirus B19 infection, may occur in some cases.

Hereditary elliptocytosis

Blood smear may show elliptical red blood cells. Elliptocytosis affects about 1 in every 2, people of northern European heritage. HPP is also due to the presence of one alpha-spectrin mutation in trans to a low-expression alpha-spectrin allele alpha-LELY. 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. Eliptocitosos to remove the spleen may decrease the rate of red blood cell damage.

HE can present at any age and the clinical picture is heterogeneous. Genetic counseling may be appropriate for people with a family history of this disease who wish to become parents. This is more like to happen when they have a viral infection. Differential diagnosis Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i.

In the most severe variants, folic acid, red cell transfusion nereditaria splenectomy after the age of 5 may be required. They often do not know they have the condition.

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File:Hereditary elliptocytosis.jpg

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.

The documents contained in this web site are presented for information purposes only. Hereditary elliptocytosis is a disorder passed down through families in which the red hereitaria cells are abnormally shaped.

Genetic mutation analysis can identify causal mutations, confirming diagnosis. 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. Other search option s Alphabetical list.

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. Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i. All HE variants, apart from HPP inherited autosomal recessivelyfollow an autosomal dominant pattern of inheritance and genetic counseling is possible.

The HPP variant is characterized by severe, transfusion-dependent hemolytic anemia with onset in infancy and that can also manifest with eliptcitosis jaundice. Heterozygous mutations usually result in common HE. Links to other sites are provided for information only — they do not hereditria endorsements of those other sites. Only comments seeking to improve the quality and accuracy of heresitaria on the Orphanet website are accepted.

It is similar to other blood conditions such as hereditary spherocytosis and hereditary ovalocystosis. Etiology HE is caused by elipyocitosis 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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