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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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. A combined splenectomy and cholecystectomy may be beneficial in patients with gallstones. Previous article Next article. This procedure is recommended for patients with severe hemolytic anemia and moderately asymptomatic individuals who have vesicular lithiasis.

Genetic counseling is recommended in families with a history of HS.

Esferocitosis hereditaria by Jazmin Cózar Madero on Prezi

HS is caused by mutations in one of the following genes: Clinical, biochemical and molecular aspects. Other search option s Alphabetical list. Folate supplement is recommended particularly after infectious events.

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. The most used test for diagnosing HS is the osmotic fragility of the red cell.


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.

HS being a hemolytic defect, frequently increased iron overload was not unexpected. Defects in these proteins lead to a loss in RBC membrane cohesion and membrane surface area, resulting in erythrocyte sphering, decreased deformability and premature destruction in the spleen. Bienvenido a siicsalud Contacto Inquietudes.

The prognosis is variable and depends on the severity of the disease and any associated complications. Laparoscopic splenectomy is preferred if performed by experienced surgeons. Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English Continuing navigation will be considered as acceptance of this use.

Splenomegaly esferocitoxis frequently observed. Monitoring of blood glucose and ferritin is recommended. Summary and related texts. HS is a very heterogeneous disease caused by an intrinsic defect of red cells; there are other secondary disorders to this affection.

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Molecular genetic testing is not routinely used to confirm diagnosis. Four HS categories hereditariia been identified: Health care resources for this disease Expert centres Diagnostic tests 35 Patient organisations 17 Orphan drug s 0. Treatment involves management of jaundice phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia.


Disease definition 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. Applying criteria such as permanence of an increased percentage of spherocytes, family history, biochemical symptoms of hemolysis and clinical data, we claim a prevalence of generally asymptomatic hereditary spherocytosis HS of 1: Management and treatment Treatment involves management of jaundice phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC esferocitoxis in case of severe, symptomatic anemia.

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Esferocitosis hereditaria: aspectos clínicos, bioquímicos y moleculares

Autosomal recessive inheritance and de novo mutations have also been reported, but are less common. 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. You can change the settings or obtain more information by clicking here. Clinical symptoms such as jaundice, splenomegaly, anemia, aplasia and biliary calculi herdeitaria a diagnosis of HS are in reality rare.