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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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 development of new techniques allowed herreditaria out the first biochemical alterations in erythrocyte membrane proteins and later on, the recombinant DNA techniques made possible to detect molecular alternations.
Orphanet: Esferocitosis hereditaria
This explains the discrepancy between these values. Only comments written in English can be processed. 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.
The journal fully endorses the goals of updating knowledge and facilitating the acquisition of key developments in internal medicine applied to clinical practice. Diagnostic methods Diagnosis is based on clinical and family history, physical examination and laboratory test results. A combined splenectomy and cholecystectomy may be beneficial in patients with gallstones.
The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years. Print Send to a friend Export esfedocitosis Mendeley Statistics.
Bienvenido a siicsalud Contacto Inquietudes. Folate supplement is recommended particularly after infectious events. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Subscriber If you already have your login data, please click here. HS being a hemolytic defect, frequently increased iron overload was herrditaria unexpected.
Specialised Social Services Eurordis directory. Se recomienda el monitoreo de glucemia y ferritina. It has been proved that this disease is caused by defects in proteins participating in vertical interactions between membrane skeleton and lipid bi-layer. Age of onset and severity vary considerably depending on the degree of anemia and hemolysis.
Monitoring of blood glucose and ferritin is recommended. Summary and related texts.
Prognosis 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 Autosomal recessive inheritance and de novo mutations have also been reported, but are less common.
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Pre and post-splenectomy vaccine prophylaxis and prophylactic antibiotics are recommended in order to prevent infections. Health care resources for this disease Expert centres Diagnostic tests 35 Patient organisations 17 Orphan drug s 0. 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.
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.
It is not indicated in patients with HS trait, whereas it is usually necessary in severe cases, albeit delayed if hereditarai until the age of 6 years.
Clinical, biochemical and molecular aspects. 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.
You can change the settings or obtain more information by clicking here. Thus it becomes possible to screen for both hereditary and secondary spherocytosis. Etiology HS is caused by mutations in one of the following genes: Molecular genetic testing is not routinely used to confirm diagnosis. 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.
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The most used test for diagnosing HS is the osmotic fragility of the red cell. SRJ is a prestige metric based on the idea that not all citations are the same. Previous article Next article. Continuing navigation will be considered as acceptance of this use.
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HS is caused by mutations in one of the following genes: The prognosis is variable and depends on the severity of the disease and any associated complications. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact. Este hecho explica la discrepancia entre estos valores. HS is a very heterogeneous disease caused by an intrinsic defect of red cells; there are other secondary disorders to this affection.
Esferocitosis hereditaria: aspectos clínicos, bioquímicos y moleculares
Antenatal diagnosis 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 the usually mild disease course. 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.
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