ELIPTOCITOSIS HEREDITARIA PDF
February 2, 2019
,, 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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People with this disease can develop anemia, jaundice, and gallstones. However, some people may have crises in which the red blood cells rupture. They often do not know they have the condition.
Complete blood count CBC eliptocitosls show anemia or signs of red blood cell destruction. Etiology 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 mutation analysis can identify causal mutations, confirming diagnosis. Hereditary elliptocytosis is a disorder passed down through families in which the red blood cells are abnormally shaped. Detailed information Professionals Summary information Suomieliptocitosiis Polskipdf.
The documents contained heredditaria this web site are presented for information purposes only. Differential diagnosis Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i. The HPP variant is characterized by severe, transfusion-dependent hemolytic eliptocittosis with onset in infancy and that can also manifest with neonatal jaundice. You are more likely to develop this condition if someone in your family has had it. 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.
Call your provider if you have jaundice eliptoocitosis does not go away or symptoms of anemia or gallstones. Elliptocytosis is often harmless. This is more like to happen when they have a viral infection. 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.
hereditary elliptocytosis – Wikidata
Nelson Textbook of Pediatrics. 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 heredtiaria long time in a newborn.
The genes involved in HE are: Prognosis In eliptocitosiw majority of cases HE is not life threatening and has no effect on life expectancy. Heterozygous mutations usually result in common HE. Most have common HE, which is mainly asymptomatic or which can present with mild hemolytic anemia as well as jaundice, splenomegaly and gallstones. The mean eliptocitoais volume in HPP is of fL and marked poikilocytosis and red cell fragmentation is present.
It is more common in people of African and Mediterranean descent. Elliptocytosis affects about 1 in every 2, people of northern European heritage.
The laboratory hallmark of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and fragmented cells on peripheral blood smears.
In the most severe variants, folic acid, red cell transfusion and splenectomy after the age of 5 may be required. Imaging of the gallbladder may show gallstones. Links to other sites are provided for information only — they do not constitute endorsements of those other sites.
An exam by your health care provider may show an enlarged spleen.
Diagnostic methods The laboratory hallmark of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and fragmented cells on peripheral blood smears. Complications that can occur due to severe anemia include growth retardation, frontal bossing, marked splenomegaly and early gallbladder disease.
Check this box if you wish to receive a copy of your message. 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.
Lactate dehydrogenase level may be high. Other search option s Alphabetical list. Most people with hereditary elliptocytosis have hereditxria problems.
HE can present at any age and the clinical picture is heterogeneous.