title: [Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency].
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.
authors.affiliation: Serviço de Hematologia Clínica, Hospital de S. João, Porto.
authors.forename: Elisa
authors.initials: E
authors.lastname: Granjo
authors.forename: Pedro
authors.initials: P
authors.lastname: Manata
authors.forename: Noémia
authors.initials: N
authors.lastname: Torres
authors.forename: Lurdes
authors.initials: L
authors.lastname: Rodrigues
authors.forename: Fátima
authors.initials: F
authors.lastname: Ferreira
authors.forename: Roswitha
authors.initials: R
authors.lastname: Bauerle
authors.forename: Alexandre
authors.initials: A
authors.lastname: Quintanilha
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001457:Anion Exchange Protein 1, Erythrocyte / Q000172:deficiency*; D017487:Ankyrins / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D013103:Spherocytosis, Hereditary / Q000209:etiology*
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte; D017487:Ankyrins