,, 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.
|Published (Last):||20 August 2017|
|PDF File Size:||9.94 Mb|
|ePub File Size:||17.26 Mb|
|Price:||Free* [*Free Regsitration Required]|
However, some people may have crises in which the red blood cells rupture. Goldman L, Schafer AI, eds. Fatigue Shortness of breath Yellow skin and eyes jaundice.
Summary and related texts.
Detailed information Professionals Summary information Suomipdf Polskipdf. HE can present at any age and the clinical picture is heterogeneous. You are more likely to develop this condition if someone in your family has had it.
Prognosis In the majority of cases HE is not life threatening eliptocitsis has no effect on life expectancy. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions.
Basic Principles and Practice. In the most severe variants, folic acid, red cell transfusion and splenectomy after the age of 5 may be required.
Health care resources for this disease Expert centres Diagnostic tests 14 Patient organisations 16 Orphan drug s 0. Check this box if you wish to receive a copy of your message.
For all other comments, please send your remarks via contact us. Complications that can occur due to severe anemia include growth retardation, frontal bossing, marked splenomegaly and early gallbladder disease.
File:Hereditary – Wikimedia Commons
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. 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. It is more common in people of African and Mediterranean descent.
Nelson Textbook of Pediatrics. Hydrops fetalis see this term may be seen in rare cases.
Orphanet: Eliptocitosis hereditaria
Surgery to remove the spleen may decrease the rate of red blood cell damage. Only comments written in English can be processed. Heterozygous mutations usually result in common HE.
This is more like to happen when they have a viral infection. HPP is also due to the presence of one alpha-spectrin mutation in trans to a low-expression alpha-spectrin allele alpha-LELY.
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. The mean corpuscular volume in HPP is of fL and marked poikilocytosis and red cell fragmentation is present.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. Hereditary elliptocytosis is a disorder passed down through families in which the red blood cells are abnormally shaped.
There is no treatment needed for the disorder unless severe anemia or anemia symptoms occur. Transient poikilocytosis may also occur during infections or pregnancy, leading to hemolytic anemia in previously asymptomatic patients.
Most people with hereditary elliptocytosis have no problems. Aplastic crisis, brought on by a Parvovirus B19 infection, may occur in some gereditaria.
People with this disease can eliptocirosis anemia, jaundice, and gallstones. Management and treatment In most cases treatment is not necessary.
Differential diagnosis Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i. Bilirubin level may be high. Lactate dehydrogenase level may be high. Blood smear may show elliptical red blood cells.
Complete blood count CBC may show anemia or signs of red blood cell destruction.
The genes involved in HE are: 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. In most cases treatment is not necessary.