,, 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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Imaging of the gallbladder may show gallstones. Most have eliptocitpsis HE, which is mainly asymptomatic or which can present with mild hemolytic anemia as well as jaundice, splenomegaly and gallstones. Complete blood count CBC may show anemia or signs of red blood cell destruction.
HE can present at any age and the clinical picture is heterogeneous.
Orphanet: Eliptocitosis hereditaria
In most cases treatment is not necessary. Other search option s Alphabetical list. Links to other sites are provided for information only — they do not constitute endorsements of those other sites. Genetic counseling may be appropriate for people with a family history of this disease who wish to become parents. Check this box if you hersditaria to receive a copy of your message.
All HE variants, apart from HPP inherited autosomal recessivelyfollow an autosomal dominant pattern of inheritance and genetic counseling is possible. Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i.
Detailed information Professionals Summary information Suomipdf Polskipdf. Surgery to remove the spleen may decrease the rate of red blood cell damage. Review provided by VeriMed Healthcare Network.
It is more common in people of African and Mediterranean descent. It is similar to other blood conditions such as hereditary spherocytosis and hereditary ovalocystosis. Since HE is very rarely life threatening, antenatal diagnosis is not necessary, except for HPP cases, where screening for low expression polymorphism i.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Aplastic crisis, brought on by a Parvovirus B19 infection, may occur in some cases. 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.
Genetic counseling All HE variants, apart from HPP inherited autosomal recessivelyfollow an herediraria 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.
Heterozygous mutations usually result in common HE. This is more eliptofitosis to happen when they have a viral infection.
Differential diagnosis Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i. May continue for a long time in a newborn.
The genes involved in HE are: Nelson Textbook of Pediatrics. The mean corpuscular volume in HPP is of fL and marked poikilocytosis and red cell fragmentation is present. Prognosis In the majority of cases HE is not life threatening and has no effect on life expectancy.
A neonatal poikilocytic HE variant may be severe during the eliptocutosis year of life but afterwards from 4 months-2 years hemolysis declines and the phenotype becomes that of common HE.
File:Hereditary – Wikimedia Commons
An exam by your health care provider may show an enlarged spleen. You are more likely to develop this condition if someone in your family has had it. Elliptocytosis is often harmless. Hreeditaria all other comments, please send your remarks via contact us.
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. Hereditary elliptocytosis is a disorder passed down through families in which the red blood cells are abnormally shaped.
Transient poikilocytosis may also occur during infections or pregnancy, leading to hemolytic anemia in previously asymptomatic patients.