Author(s):
Rocha, Susana 
; Rebelo, Irene ; Costa, Elísio ; Catarino, Cristina ; Belo, Luís ; Castro, Elisabeth ; Cabeda, José ; Barbot, José ; Quintanilha, Alexandre ; Santos-Silva, Alice
Date: 2005
Persistent ID: http://hdl.handle.net/10198/510
Origin: Biblioteca Digital do IPB
Subject(s): Hereditary spherocytosis; Erythrocyte membrane proteins
Description
Vertical and horizontal interactions between membrane constituents account for integrity, strength and deformability of the
erythrocyte. Disruption of vertical interactions caused by membrane
protein deficiencies in hereditary spherocytosis (HS), favor membrane
vesiculation with development of spherocytic cells. Our aim was to evaluate the hematological and clinical presentation of HS according to the type and amount of protein deficiency. We studied 81 Portuguese
individuals, 71 belonging to 21 families plus 10 unrelated subjects, and found that 51 of them were HS patients. Patients were classified as presenting mild, typical or severe HS, according to laboratory results
and clinical follow-up. We performed screening tests and the standardized
electrophoretic membrane protein analysis to identify and quantify protein deficiencies. We found band 3 and ankyrin deficiencies
as the major causes for HS. The ratios between the value of the primary and/or secondary protein deficiencies showed significantly different values according to the severity of HS, and a significant inverse correlation with the severity of HS was observed. In mild HS, the ratios
between protein deficiencies reflected equivalent protein deficiencies,
while an unbalance was observed in typical HS, which was enhanced in severe HS. Our data suggest that the relative quantification of each major membrane protein and of the ratios between the values of protein deficiencies may be helpful in providing additional data about the
clinical outcome of HS.
