Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency.

Authors

  • Elisa Granjo Serviço de Hematologia Clínica, Hospital de S. João, Porto.
  • Pedro Manata
  • Noémia Torres
  • Lurdes Rodrigues
  • Fátima Ferreira
  • Roswitha Bauerle
  • Alexandre Quintanilha

DOI:

https://doi.org/10.20344/amp.1152

Abstract

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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Published

2012-11-22

How to Cite

1.
Granjo E, Manata P, Torres N, Rodrigues L, Ferreira F, Bauerle R, Quintanilha A. Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency. Acta Med Port [Internet]. 2012 Nov. 22 [cited 2024 Mar. 28];16(2):65-9. Available from: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1152

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Section

Arquivo Histórico