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.

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Esferocitosis hereditaria: aspectos clínicos, bioquímicos y moleculares

hreeditaria Other search option s Alphabetical list. 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.

Summary and related texts. 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. Defects in these proteins lead to a loss in RBC esferoxitosis cohesion and membrane surface area, resulting in erythrocyte sphering, hereditatia deformability and premature destruction in the spleen. The prognosis is variable esfrocitosis depends on the severity of the disease and any associated complications.

Hereditary spherocytosis HS is a disease characterized by hemolytic anemia of variable severity, with spherocytes in peripheral blood and a clinical response to splenectomy. Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum from symptom-free carriers to severe hemolysis characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

This procedure is recommended for patients with severe hemolytic anemia and moderately asymptomatic individuals who have vesicular lithiasis Palabras clave: From Monday to Friday from 9 a. 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 and spherocytes do not disappear.


Polish Academjy of Sciences? 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.

De esta forma es posible el rastreo de la esferocitosis hereditaria y de la esferocitosis secundaria. The development of new techniques allowed finding out the first biochemical alterations in erythrocyte membrane proteins and later on, the recombinant DNA techniques made possible to detect molecular alternations. Differential diagnoses include hereditary elliptocytosis, hereditary stomatocytosis, Southeast Asian ovalocytosis, glucosephosphate dehydrogenase deficiency, pyruvate kinase deficiency, autoimmune hemolytic anemia, and alpha-thalassemia see these terms.

Subscribe to our Newsletter. Diagnostic methods Diagnosis is based on clinical and family history, physical examination and laboratory test results.

Thus it becomes possible to screen for both hereditary esferocitosia secondary spherocytosis. Molecular genetic testing is not routinely used to confirm diagnosis. SRJ is a prestige metric based on the idea that not all citations are the same. Hereeitaria is caused by mutations in one of the following genes: SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact.

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Continuing navigation will be considered as acceptance of this use. Health care resources for this disease Expert centres Diagnostic tests 35 Patient organisations 17 Orphan drug s 0.


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HS is a very heterogeneous disease caused by an intrinsic defect of red cells; there are other secondary disorders to this affection. This item has received. Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English Patient and physician should be informed of the presence of HS to avoid misinterpretation of concurrent pathological symptoms.

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Orphanet: Esferocitosis hereditaria

For intermediate categories the indication is less clear, being useful in esfrrocitosis cases before puberty. It is not indicated in patients with HS trait, whereas it is usually necessary in severe cases, albeit delayed if possible until the age of 6 years. The most used test for diagnosing HS is the osmotic fragility of the red cell. Etiology HS is caused by mutations in one of the following genes: The journal fully endorses the goals of updating knowledge and facilitating the acquisition of key developments in internal medicine applied to clinical practice.

Four HS categories have been identified: Autosomal recessive inheritance and de novo mutations have also been reported, but are less common.

Se recomienda el monitoreo de glucemia y ferritina. Serum ferritin levels should be checked annually.