Esferocitose hereditária--prevalência dos défices proteicos da membrana do eritrócito.

The authors studied the relative prevalence of erythroid cytoskeletal protein defects and their relationship with the clinical course of Hereditary Spherocytosis (HS) in 39 Portuguese patients of North of Portugal (25 families). This study showed that, in the North of Portugal, HS is primarily due t...

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Main Authors: Elisa Granjo, Pedro Manata, Noémia Torres, Lurdes Rodrigues, Fátima Ferreira, Roswitha Bauerle, Alexandre Quintanilha
Format: Article
Language:English
Published: Ordem dos Médicos 2012-11-01
Series:Acta Médica Portuguesa
Online Access:https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1152
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author Elisa Granjo
Pedro Manata
Noémia Torres
Lurdes Rodrigues
Fátima Ferreira
Roswitha Bauerle
Alexandre Quintanilha
author_facet Elisa Granjo
Pedro Manata
Noémia Torres
Lurdes Rodrigues
Fátima Ferreira
Roswitha Bauerle
Alexandre Quintanilha
author_sort Elisa Granjo
collection DOAJ
description The authors studied the relative prevalence of erythroid cytoskeletal protein defects and their relationship with the clinical course of Hereditary Spherocytosis (HS) in 39 Portuguese patients of North of Portugal (25 families). This study showed that, in the North of Portugal, HS is primarily due to anquirin deficiency (72%), followed by band 3 (20%). These findings are similar to the published data in other Caucasian populations. Anquirin primary defects have been difficult to diagnose before splenectomy, due to high reticulocytes counts.
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spelling doaj.art-af02c334075c40eda3d8e76ebccac4d62022-12-22T03:54:59ZengOrdem dos MédicosActa Médica Portuguesa0870-399X1646-07582012-11-0116210.20344/amp.1152Esferocitose hereditária--prevalência dos défices proteicos da membrana do eritrócito.Elisa Granjo0Pedro ManataNoémia TorresLurdes RodriguesFátima FerreiraRoswitha BauerleAlexandre QuintanilhaServiço de Hematologia Clínica, Hospital de S. João, Porto.The authors studied the relative prevalence of erythroid cytoskeletal protein defects and their relationship with the clinical course of Hereditary Spherocytosis (HS) in 39 Portuguese patients of North of Portugal (25 families). This study showed that, in the North of Portugal, HS is primarily due to anquirin deficiency (72%), followed by band 3 (20%). These findings are similar to the published data in other Caucasian populations. Anquirin primary defects have been difficult to diagnose before splenectomy, due to high reticulocytes counts.https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1152
spellingShingle Elisa Granjo
Pedro Manata
Noémia Torres
Lurdes Rodrigues
Fátima Ferreira
Roswitha Bauerle
Alexandre Quintanilha
Esferocitose hereditária--prevalência dos défices proteicos da membrana do eritrócito.
Acta Médica Portuguesa
title Esferocitose hereditária--prevalência dos défices proteicos da membrana do eritrócito.
title_full Esferocitose hereditária--prevalência dos défices proteicos da membrana do eritrócito.
title_fullStr Esferocitose hereditária--prevalência dos défices proteicos da membrana do eritrócito.
title_full_unstemmed Esferocitose hereditária--prevalência dos défices proteicos da membrana do eritrócito.
title_short Esferocitose hereditária--prevalência dos défices proteicos da membrana do eritrócito.
title_sort esferocitose hereditaria prevalencia dos defices proteicos da membrana do eritrocito
url https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1152
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