ESFEROCITOSIS HEREDITARIA PDF

Esferocitosis hereditaria. Carolina Cózar Trastorno hemolítico familiar caracterizado por: anemia ictericia intermitente esplenomegalia. El estudio realizado en Luxemburgo demuestra que la prevalencia de esferocitosis hereditaria es mucho más alta que la considerada hasta ahora. Resumen. HERRERA GARCIA, Mayelín y ESTRADA DEL CUETO, Marianela. Hereditary spherocytosis: Clinical, biochemical and molecular aspects.

Author: Vinos Arashirr
Country: Kazakhstan
Language: English (Spanish)
Genre: Software
Published (Last): 11 June 2018
Pages: 19
PDF File Size: 15.73 Mb
ePub File Size: 1.70 Mb
ISBN: 474-2-75133-297-6
Downloads: 75266
Price: Free* [*Free Regsitration Required]
Uploader: Akinolrajas

SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact.

Clinical symptoms such as jaundice, splenomegaly, anemia, aplasia and biliary calculi prompting a diagnosis of HS are in reality rare. Check this box if you wish to receive a copy of your message.

Orphanet: Esferocitosis hereditaria

Pre and esfegocitosis vaccine prophylaxis and prophylactic antibiotics are recommended in order to prevent infections. Prenatal diagnosis for at-risk pregnancies is possible if disease-causing mutations have been identified in a family, but it is not routinely performed due to esferocitosix usually mild disease course.

This procedure is recommended for patients with severe hemolytic anemia and moderately asymptomatic individuals who have vesicular lithiasis. Diagnostic methods Diagnosis is based on clinical and family history, physical examination and laboratory test results.

Continuing navigation will be considered as acceptance of this use.

There was a problem providing the content you requested

Abstract Hematological automates using double beam laser diffraction by artificially spherized red blood cells determine both volume and hemoglobin concentration of a very large number of cells, even indicating percentages of aberrant elements. It has been proved that this disease is caused by defects in proteins participating in vertical interactions between membrane skeleton and lipid bi-layer.

Related Posts  JIM BLYTHE COMPORTAMENTUL CONSUMATORULUI PDF

HS is caused by esferocitpsis in one of the following genes: Specialised Social Services Eurordis directory.

August – September Pages ee78 Pages The documents contained in this web site are presented for information purposes only. Other search option s Alphabetical list.

Treatment involves management of jaundice phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia. You can change the settings or obtain more information by clicking here. Management and treatment Treatment involves management of jaundice phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia.

The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding esfreocitosis.

The treatment of choice in HS is splenectomy, since this is the most effective method in the control of anemia, although red cell survival is still short esferoitosis spherocytes do not disappear. Clinical, biochemical and molecular aspects. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Diagnosis is based on clinical and family history, physical examination and laboratory test results. Patient and physician should be informed of the presence of HS to avoid misinterpretation of concurrent pathological symptoms.

Subscribe to our Newsletter. For intermediate categories the indication is less clear, being useful in moderate cases before puberty.

Related Posts  BUSINESSWORLD MARKETING WHITEBOOK PDF

Esferocitosis hereditaria by Jazmin Cózar Madero on Prezi

Rare complications include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload. Differential diagnosis Differential diagnoses include hereditary elliptocytosis, hereditary stomatocytosis, Southeast Asian ovalocytosis, glucosephosphate dehydrogenase deficiency, pyruvate kinase deficiency, autoimmune hemolytic anemia, and alpha-thalassemia see hegeditaria terms.

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Se uereditaria el monitoreo de glucemia y ferritina. Hereditary spherocytosis HS is a disease characterized by hemolytic anemia of variable severity, with spherocytes in peripheral blood and a clinical response to splenectomy. Red cell morphology, osmotic resistance, hypertonic cryohemolysis test, eosinmaleimide binding in flow cytometry, sodium dodecyl sulfate-poly acrylamide gel electrophoresis and ektacytometry are all used to diagnose HS.

The most used test for diagnosing HS is the osmotic fragility of the red cell. 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. The prognosis is variable and depends on the severity of the disease and any associated complications.

Age of onset and severity vary considerably depending on the degree of anemia and hemolysis.

Previous article Next article.