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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However, some people may have crises in which the red blood cells rupture. Review provided by VeriMed Healthcare Network.

Any duplication or distribution of the information contained herein is strictly prohibited. The material is in no way intended to replace professional medical care by a qualified specialist and should hreeditaria be used as a basis for diagnosis or treatment.

Basic Principles and Practice. Red blood cell membrane disorders. Check this box if you wish to receive a copy of your message. Elliptocytosis affects about 1 in every 2, people of northern European heritage.

Diagnostic methods The laboratory hallmark of HE is the presence of herediyaria sometimes also ovalocytes, spherocytes, stomatocytes and fragmented elliptocitosis on peripheral blood smears. May continue for a long time in a newborn. Etiology HE is caused by abnormalities of proteins involved in the red cell membrane horizontal skeletal network including the spectrin herefitaria interaction or the spectrin-actin-protein 4.

The genes involved in HE are: Most have common HE, which is mainly asymptomatic or which can present with mild hemolytic anemia as well as jaundice, splenomegaly and gallstones.

Genetic mutation analysis can identify causal mutations, confirming diagnosis.

File:Hereditary elliptocytosis.jpg

Other search option s Alphabetical list. Complete blood count CBC may show anemia or signs of red hrreditaria cell destruction. All HE variants, apart from HPP inherited autosomal recessivelyfollow an autosomal dominant pattern of heredifaria and genetic counseling is possible. Blood smear may show elliptical red blood cells. Clinical description HE can present at any age and the clinical picture is heterogeneous.

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Detailed information Professionals Summary information Suomipdf Polskipdf. The HPP eliptocitoss is characterized by severe, transfusion-dependent hemolytic anemia with onset in infancy and that can also manifest with neonatal 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. 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.

Patients should be monitored during events known to precipitate hemolysis.

They often do not know they have the condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Management and treatment In most cases treatment is elkptocitosis necessary. Goldman L, Schafer AI, eds. Summary and related texts. Hydrops fetalis see this term may be seen in rare cases.

In the most severe variants, folic acid, red cell transfusion and splenectomy after the age of 5 may be required. People with this disease can develop anemia, jaundice, and gallstones. Links to other sites are provided for information only — they do not constitute endorsements of those other sites. Fatigue Shortness of breath Yellow skin and eyes jaundice. Surgery to remove the spleen may decrease bereditaria rate of red blood cell damage.

Aplastic crisis, brought on by a Parvovirus B19 infection, may occur in some cases. Complications that can hefeditaria due to severe anemia include growth retardation, frontal bossing, marked splenomegaly and early gallbladder disease.

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

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Heterozygous mutations usually result in common HE. 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 following test results may help diagnose the condition: HE can present at any age and the clinical picture is heterogeneous.

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.

Lactate dehydrogenase level may be high. Specialised Social Services Eurordis directory.

This is more like to happen when they have a viral infection. It is more common in people of African and Mediterranean descent.

Orphanet: Eliptocitosis hereditaria

Genetic counseling may be appropriate for people with a family history of this disease who wish to hereditariw parents. Hereditarai all other comments, please send your remarks via contact us. Most people with hereditary elliptocytosis have no problems. Call your provider if you have jaundice that does not go away or symptoms of anemia or gallstones. 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.

You are more likely to develop this condition if someone in your family has had it. An exam by your health care provider may show an enlarged spleen.