,, 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 can present at any age and the clinical picture is heterogeneous. Most have common HE, which eliptocitlsis mainly asymptomatic or which can present with mild hemolytic anemia as well as jaundice, splenomegaly and gallstones. Any duplication or distribution of the information contained herein is strictly prohibited. Genetic counseling may be appropriate for people with a family history of this disease who wish to become parents.
hereditary elliptocytosis – Wikidata
Most people with hereditary elliptocytosis have no problems. Imaging of the gallbladder may show gallstones. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. In the most severe variants, folic acid, red cell transfusion and splenectomy after the age of 5 may be required. All HE variants, apart from HPP inherited autosomal recessivelyfollow an autosomal dominant pattern of inheritance and genetic counseling is possible.
File:Hereditary – Wikimedia Commons
The documents contained in this web site are presented for information purposes only. Detailed information Professionals Summary information Suomipdf Polskipdf. 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. Hereditarai information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
Clinical description HE can present at any age and the clinical picture is heterogeneous.
Surgery eliptoctiosis remove the spleen may decrease the rate of red blood cell damage. Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i. Links to other sites are provided for information only — they do not constitute endorsements of those other sites.
Management and treatment In most cases treatment is not necessary. The laboratory hallmark of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and fragmented cells on peripheral blood smears. Other search option s Alphabetical eiptocitosis. For all other comments, please send your remarks via contact us. There is no treatment needed for the disorder unless severe anemia or anemia symptoms occur.
Lactate dehydrogenase level may be high. The genes involved in HE are: This is more like to happen when they have a viral infection.
Health care resources for this disease Expert centres Diagnostic tests 14 Patient organisations 16 Orphan drug s 0. Complete blood count CBC may show anemia or signs of red blood cell destruction. Prognosis In the majority of cases HE is not life threatening and has no effect on life expectancy.
Genetic mutation analysis can identify causal mutations, confirming diagnosis.
Review provided by VeriMed Healthcare Network. Red blood cell membrane disorders. Summary and related texts. It is more common in people of African and Mediterranean descent. 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.
They often do not know they have the condition. Bilirubin level may be high.
Hereditxria mutations usually result in common HE. Check this box if you wish to receive a copy of your message. However, some people may have crises in which the red blood cells rupture.