,, 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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Antenatal diagnosis Since HE is very rarely life threatening, antenatal diagnosis is not necessary, except for HPP cases, where screening for low expression eloptocitosis i. 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.
Specialised Social Services Eurordis directory. Review provided by VeriMed Healthcare Network. Goldman L, Schafer AI, eds.
Management and treatment In most cases treatment is not necessary. Genetic counseling may be appropriate for people with a family history of this disease who wish to become parents. In most cases treatment is not necessary. Health care resources for this disease Expert centres Diagnostic tests 14 Patient organisations 16 Orphan drug s 0. HPP is also due to the presence of one alpha-spectrin mutation in trans to a low-expression alpha-spectrin allele alpha-LELY. Patients should be monitored during events known to precipitate hemolysis.
Summary and related texts. Most people with hereditary elliptocytosis have no problems.
Call your provider if you have jaundice heredktaria does not go away or symptoms of anemia or gallstones. The genes involved in HE are: An exam by your health care provider may show an enlarged spleen. All HE variants, apart from HPP inherited autosomal recessivelyfollow an autosomal dominant pattern of inheritance and genetic counseling is possible.
Detailed information Professionals Summary information Suomipdf Polskipdf.
Nelson Textbook of Pediatrics. The documents contained in this web site are presented for information purposes only. Clinical description HE can present at any age and the clinical picture is heterogeneous.
Fatigue Shortness of breath Yellow skin and eyes jaundice. 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.
It is similar to other blood conditions such as hereditary spherocytosis and hereditary ovalocystosis. Hereditary elliptocytosis is a disorder passed down through families in which the red blood cells are abnormally shaped.
Elliptocytosis affects about 1 in every 2, people of northern European heritage.
Lactate dehydrogenase level may be high. The mean corpuscular volume in HPP is of fL and marked poikilocytosis and red cell fragmentation is present.
HE can present at any age and the clinical picture is heterogeneous. Since HE is very rarely life threatening, antenatal diagnosis is not necessary, except for HPP cases, where screening for low expression polymorphism i. Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i.
Hereditary elliptocytosis Heredltaria 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. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions.
Blood smear may show elliptical red blood cells. There heredtiaria no treatment needed for the disorder unless severe anemia or anemia symptoms occur. Differential diagnosis Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i.
Complications that can occur due to severe anemia include growth retardation, frontal bossing, marked splenomegaly and early gallbladder disease.