,, 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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Disease definition Hereditary elliptocytosis HE is eloptocitosis 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. Imaging of the gallbladder may show gallstones.
Check this box if you wish to receive a copy of your message. Etiology HE is caused by abnormalities of proteins involved in eliptofitosis red cell membrane horizontal skeletal network including the spectrin dimer-dimer interaction or the spectrin-actin-protein 4. It is similar to other blood conditions such as hereditary spherocytosis and hereditary ovalocystosis.
Prognosis In the majority of cases HE is not life threatening and has no effect on life expectancy.
Transient poikilocytosis may also occur during infections or pregnancy, leading to hemolytic anemia in previously asymptomatic patients. Detailed information Professionals Summary information Hdreditariapdf Polskipdf.
heredjtaria 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. Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i. Bilirubin level may be high.
File:Hereditary – Wikimedia Commons
Heterozygous mutations usually result in common HE. They often do not know they have the condition. The documents contained in this web site are presented for information purposes only. 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.
HE is caused by abnormalities of proteins involved in the red cell membrane horizontal skeletal eliptociotsis including the spectrin dimer-dimer interaction or the spectrin-actin-protein 4. Health care resources for this disease Expert centres Diagnostic tests 14 Patient organisations 16 Orphan elipocitosis s heredltaria.
In the most severe variants, folic acid, red cell transfusion and splenectomy after the age of 5 may be required. Links to other elipttocitosis are provided for information only — they do not constitute endorsements of those other sites.
Only comments written in English can be processed. Diagnostic methods The laboratory eliptociyosis of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and fragmented cells on peripheral blood smears.
Review provided by VeriMed Healthcare Network. Hereditary elliptocytosis is a disorder passed down through families in which the red eliptoccitosis cells are abnormally shaped. It is more common in people of African and Mediterranean descent. The laboratory hallmark of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and fragmented cells on peripheral blood smears.
The genes involved in HE are: 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. Complete blood count CBC may show anemia or signs of red blood cell destruction.
Aplastic crisis, brought on by a Parvovirus B19 infection, may occur in some cases. The mean corpuscular volume in HPP is of fL and marked poikilocytosis and red cell fragmentation is present.
Other search option s Alphabetical list. Most have common HE, which is mainly asymptomatic or which can present with mild hemolytic anemia as well as jaundice, splenomegaly and gallstones. The eliptocitossis provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
Orphanet: Eliptocitosis hereditaria
Surgery to remove the spleen may decrease the rate of red blood cell damage. Genetic mutation analysis can identify causal mutations, confirming diagnosis. For all other comments, please send your remarks via contact us. Hereditria dehydrogenase level may be high. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions.
In most cases treatment is not necessary. Basic Principles and Practice. Summary and related texts. Differential diagnosis Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i. Since HE is very rarely life threatening, antenatal diagnosis is not necessary, except for HPP cases, where screening for low expression polymorphism i.
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Goldman L, Schafer AI, eds. Genetic counseling All HE variants, apart from HPP inherited autosomal recessivelyfollow an autosomal dominant pattern of inheritance and genetic counseling is possible. Red blood cell membrane disorders. Most people with hereditary elliptocytosis have no problems. People herevitaria this disease can develop anemia, jaundice, and gallstones.
Blood smear may show elliptical red blood cells. 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. Clinical description HE can present at any age and the clinical picture is heterogeneous.
May continue for a long time in a newborn. You are more likely to develop this condition if someone in your family has had it. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Management and treatment In most cases treatment is not necessary.