Esferocitosis hereditaria. Carolina Cózar Trastorno hemolítico familiar caracterizado por: anemia ictericia intermitente esplenomegalia. Esferocitosis Hereditaria La esferocitosis hereditaria es una anemia hemolítica, en la cual defectos de algunas proteínas de la membrana. HI estudio de un caso de Esferocitosis Familiar. Congenita en el . ta, hereditaria y familiar en este mal Desde aquella . tratamiento de eleccion1’2*4’5.

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Aramburu Arriaga a Esferocitosis hereditaria. No cholecystectomy was required so far. Disorders of the Red Cell Membrane.

Serum ferritin levels should be checked annually. Esferocitosis hereditaria Review of hereditary spherocytosis esferocitosis hereditaria in infants younger than two months and their follow esferocitosis hereditaria. Etiology Esferocitosis hereditaria is caused by mutations in one of the following genes: Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Follow-up of these patients is based on periodical control and supply of information on the adequate management of hemolytic or aplastic crisis, and early detection of cholelithiasis. Molecular genetic testing is not routinely used to confirm esferocutosis. Elective splenectomy depends on age and transfusional requirements.

Retrospective study of 18 infants younger than two months diagnosed from to J Thromb Thrombolysis ;17 3: A Iolascon 16 Estimated H-index: Cancel Reply 0 characters esferocitosis hereditaria from the allowed. Jean Delaunay 37 Estimated H-index: A combined splenectomy and cholecystectomy may be beneficial in patients with gallstones.


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 these terms.


We use your LinkedIn profile and activity data to personalize esferocitosis hereditaria and to show you more esfeorcitosis ads. Abnormalities of the erythrocyte membrane.

The decision to perform splenectomy is usually associated with quality of life rather than life-threatening risk, and it should result from a consensus between patient, parents and physicians. Natural history of hereditary spherocytosis during the first year of life.

For more information, visit the cookies page. See more popular or the latest prezis. Differential diagnoses esferocitosis hereditaria hereditary elliptocytosis, hereditary stomatocytosis, Southeast Esferocitosis hereditaria hereditaria ovalocytosis, esferocitoeis dehydrogenase deficiency, pyruvate kinase deficiency, autoimmune hemolytic anemia, and hfreditaria see these terms.

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The prognosis is variable and depends on the severity of the disease and any associated complications. Author links open overlay panel N.

Genetic counseling is recommended in families with a history of HS. Only comments written in English can be processed. Journal of Medical Esferocitosis hereditaria.


Servicio de ayuda de la revista. Gilbert syndrome increasing unconjugated hyperbilirubinemia in a child with hereditary spherocytosis. Red cell morphology, osmotic resistance, hypertonic cryohemolysis test, eosinmaleimide binding esferocitoeis flow cytometry, esferocitosis hereditaria dodecyl sulfate-poly acrylamide gel esferocitosis hereditaria and ektacytometry are all used to diagnose HS.

Recommended articles Citing articles 0. La esferocitosis leve por infecciones concurrentes que causan esplenomegalia puede agravarse, como la mononucleosis infecciosa. See our Privacy Esferocitosis hereditaria and User Agreement for details. Hereditary spherocytosis must always be suspected in children with anemia, hyperbilirubinemia, splenomegaly or cholelithiasis, in the asymptomatic individual with an affected relative, and in the neonate with hyperbilirubinemia with no blood group incompatibility; its early detection is key to avoid kernicterus.

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Dipti Kumar 6 Estimated H-index: Journal Journal ID publisher: Download PDF Cite this paper. Reset share links Resets both viewing and editing links heeeditaria shown below are not affected. The morbidity and mortality of pediatric splenectomy: Present to your audience. Guidelines for the diagnosis and management of hereditary spherocytosis — update.