title: Protein deficiency balance as a predictor of clinical outcome in hereditary spherocytosis.
abstract: 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.
authors.affiliation: Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal.
authors.forename: S
authors.initials: S
authors.lastname: Rocha
authors.forename: I
authors.initials: I
authors.lastname: Rebelo
authors.forename: E
authors.initials: E
authors.lastname: Costa
authors.forename: C
authors.initials: C
authors.lastname: Catarino
authors.forename: L
authors.initials: L
authors.lastname: Belo
authors.forename: E M B
authors.initials: EM
authors.lastname: Castro
authors.forename: J M
authors.initials: JM
authors.lastname: Cabeda
authors.forename: J
authors.initials: J
authors.lastname: Barbot
authors.forename: A
authors.initials: A
authors.lastname: Quintanilha
authors.forename: A
authors.initials: A
authors.lastname: Santos-Silva
mesh_terms: D001457:Anion Exchange Protein 1, Erythrocyte / Q000172:deficiency*; D017487:Ankyrins / Q000172:deficiency*; D004910:Erythrocyte Membrane / Q000737:chemistry; D006801:Humans; D008565:Membrane Proteins / Q000097:blood* / Q000172:deficiency*; D011174:Portugal; D011237:Predictive Value of Tests; D013103:Spherocytosis, Hereditary / Q000097:blood / Q000628:therapy*; D016896:Treatment Outcome
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte; D017487:Ankyrins; D008565:Membrane Proteins