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: Other search option s Alphabetical list. HE is caused by abnormalities of proteins involved in eliltocitosis red cell membrane horizontal skeletal network including the spectrin dimer-dimer interaction or the spectrin-actin-protein 4.

Patients should be monitored during events known to precipitate hemolysis. Bilirubin level may be high.

Lactate dehydrogenase level may be high. In most cases treatment is not necessary. Heterozygous mutations usually result in common HE. Red blood cell membrane disorders.

hereditary elliptocytosis – Wikidata

Elliptocytosis is often harmless. Complete blood count CBC may show anemia or signs of red blood cell destruction.

Most have common HE, which is mainly asymptomatic or which can present with mild hemolytic anemia as well as jaundice, splenomegaly and nereditaria. The following test results may help diagnose the condition: Imaging of the gallbladder may show gallstones. Detailed information Professionals Summary information Suomipdf Polskipdf.

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It is similar to other blood conditions such as hereditary spherocytosis and hereditary ovalocystosis.

The mean corpuscular volume in HPP is of heeditaria and marked poikilocytosis and red cell fragmentation is present. Fatigue Shortness of breath Yellow skin and eyes jaundice. Elliptocytosis affects about 1 in every 2, people of northern European heritage. The documents contained in this web site are presented for information purposes only. Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i.

Any duplication or distribution of the information contained herein is strictly prohibited. The HPP variant is characterized by severe, transfusion-dependent hemolytic anemia with onset in infancy and that can also manifest with neonatal jaundice. Links to other sites are heredittaria for information only — they do not constitute endorsements of those other sites.

Differential diagnosis Differential diagnoses include other acquired causes eliptociotsis elliptocytic or fragmented red cells i.

May continue for a long time in a newborn. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Only comments written in English can be processed. However, some people may have crises in which the red blood cells rupture.

Prognosis In the majority of cases HE is not life threatening and has no effect on life expectancy. 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.

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Hereditary elliptocytosis is a disorder passed down through families in which the red blood cells are abnormally shaped. HPP is also herediyaria to the presence of one alpha-spectrin mutation in trans to a low-expression alpha-spectrin allele alpha-LELY. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

File:Hereditary elliptocytosis.jpg

You are more likely to develop this condition if someone in your family has had it. Health care resources for this disease Expert centres Diagnostic tests 14 Patient organisations 16 Orphan drug s 0.

Genetic counseling may be appropriate for people with a family history of this disease who wish eliptoditosis become parents. In the most severe variants, folic acid, red cell transfusion and splenectomy after the age of 5 may be required.