RESUMO
Hereditary spherocytosis is a common hemolytic disorder characterized by a defect or deficiency in one or more of the proteins composing red blood cell membrane. As a result, red blood cells have an abnormal shape, higher metabolic requirements, and are prematurely trapped and destroyed in the spleen. Hereditary spherocytosis, including the very mild or subclinical forms, is the most common cause of non-immune hemolytic anemia among people of Northern European ancestry, with a prevalence of approximately 1 in 2000. However very mild forms of the disease may be much more common. Hereditary spherocytosis is inherited in a dominant fashion in 75% of cases, whereas the remaining are truly recessive cases and de novo mutations. This review reports current concepts on red cell membrane structure and it will attempt to clarify molecular defects leading to spherocyte and their consequences.
Assuntos
Esferocitose Hereditária/sangue , Anemia Hemolítica/epidemiologia , Anemia Hemolítica/genética , Proteína 1 de Troca de Ânion do Eritrócito/genética , Diagnóstico Diferencial , Deformação Eritrocítica/genética , Membrana Eritrocítica/metabolismo , Europa (Continente)/epidemiologia , Genes Dominantes , Genes Recessivos , Humanos , Proteínas de Membrana/sangue , Proteínas de Membrana/genética , Mutação , Esferocitose Hereditária/diagnóstico , Esferocitose Hereditária/genética , Esferocitose Hereditária/metabolismo , População Branca/genéticaRESUMO
DMT1 deficiency causes microcytic hypochromic anemia due to decreased erythroid iron utilization. Anemia is present from birth. Transferrin saturation is high and serum ferritin is mildly elevated, despite liver iron overload. DMT1 deficiency must be considered in the differential diagnosis of microcytic hypochromic anemia observed in the newborn period.
Assuntos
Anemia Hipocrômica/genética , Proteínas de Transporte de Cátions/genética , Genes Recessivos , Mutação , Anemia Hipocrômica/diagnóstico , Anemia Hipocrômica/tratamento farmacológico , Proteínas de Transporte de Cátions/deficiência , Diagnóstico Diferencial , Eritrócitos/metabolismo , Eritropoetina/uso terapêutico , Ferritinas/sangue , Genótipo , Humanos , Recém-Nascido , Quelantes de Ferro/uso terapêutico , Fenótipo , Transferrina/metabolismoRESUMO
Postoperative infectious complications still represent a relevant problem in colorectal surgery. They always results in suffering for the patients and often prolonged hospitalization. Furthermore, they result in additional expenses to cover the cost of antibiotics, blood derivates, total parenteral nutrition, nursing and additional surgical procedures. Prevention and control of hospital infections start with surveillance, which is an important means to constantly evaluate the local bacterial epidemiology. An infection surveillance program finalized to minimize the incidence of postoperative infections through the respect of available techniques leads to a better quality of work in each surgical unit, to a decrease in postoperative hospital stay and to cost reduction.