,, 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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HPP is also due to the presence of one alpha-spectrin mutation in trans to a low-expression alpha-spectrin allele alpha-LELY. Links to other sites are provided for information only — they do not constitute endorsements of those other sites.
Blood smear may show elliptical red blood cells. Prognosis In the majority of cases HE is not life threatening and has no effect on life expectancy.
Detailed information Professionals Summary information Suomipdf Polskipdf. 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 recessively eliptocitosus, follow an autosomal dominant pattern of inheritance and genetic counseling is possible. Heterozygous mutations usually result in common HE. The documents contained in this web site heredktaria presented for information purposes only.
Diagnostic methods The laboratory hallmark of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and fragmented cells on peripheral blood smears. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions.
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. 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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Genetic counseling may be appropriate for people with a family history of this disease who wish to become parents. A neonatal poikilocytic HE variant may be severe during the first year of life eiptocitosis afterwards from 4 months-2 years hemolysis declines and the phenotype becomes that of common HE.
Lactate dehydrogenase level may be high.
Since HE is very rarely life threatening, antenatal diagnosis is not necessary, except for HPP cases, where screening for low expression polymorphism i. 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.
Complete eliptoocitosis count CBC may show anemia or signs of red blood cell destruction.
Ovalocitosis hereditaria by Vanessa Aristizabal on Prezi
The mean corpuscular volume in Epiptocitosis is of fL and marked poikilocytosis and red cell fragmentation is present. Differential diagnosis Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i. Transient poikilocytosis may also occur during infections or pregnancy, leading to hemolytic anemia in previously asymptomatic patients. Management and treatment In most cases treatment is not necessary. Elliptocytosis is often harmless.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. May continue for a long time in a newborn.
Genetic counseling All HE variants, apart from HPP inherited autosomal recessivelyfollow an autosomal dominant pattern of inheritance and genetic counseling is possible.
HE can present at any age and the clinical picture is heterogeneous. Surgery to remove the spleen may decrease the rate of red blood cell damage. Only comments written in English can be processed. Red blood cell membrane disorders.
You are more likely to eliptocitois this condition if someone in your family has had it. The laboratory hereditari of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and fragmented cells on peripheral blood smears.
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.