Erythrocyte membrane protein destabilization versus clinical outcome in 160 Portuguese Hereditary Spherocytosis patients

Susana Rocha (1, 2) , Elísio Costa (2, 3) , Petronila Rocha-Pereira (2, 4) , Fátima Ferreira (5) , Esmeralda Cleto (6) , José Barbot (7) , Alexandre Quintanilha (2, 8) , Luís Belo (1, 2) , Alice Santos-Silva (1, 2)

1 Universidade do Porto
2 Universidade do Porto
3 Universidade Católica Portuguesa [Porto]
4 UBI - University of Beira Interior [Portugal]
5 Hospital S. João
6 Centro Hospitalar do Porto – Hospital Santo António
7 Centro Hospitalar do Porto – Hospital Maria Pia
8 Universidade do Porto

Hereditary Spherocytosis (HS) is a haemolytic anaemia caused by erythrocyte protein membrane defects – spectrin, ankyrin, band 3 or protein 4.2 – that lead to membrane destabilization. Ours aims were to evaluate the prevalence of protein deficiencies and the role of membrane proteins or of membrane linked proteins in membrane disturbance and in HS clinical outcome. We studied 215 Portuguese individuals – 203 from 71 families plus 12 individual unrelated subjects, and found that 160 of them were HS patients. They were classified as presenting mild, moderate or severe forms of HS according to the degree of haemolytic anaemia. We performed the standardized electrophoretic erythrocyte membrane protein analysis to identify and quantify protein deficiencies. We found that band 3 and ankyrin account for the majority of the erythrocyte protein defects underlying HS. Increasing isolated protein deficiency or increasing unbalance between combined protein deficiencies seem to underlie HS severity, by increasing membrane destabilization. We found an increased membrane linkage of the cytosolic proteins, G3PD and peroxiredoxin 2, and of methaemoglobin, suggesting that this could interfere with membrane structure. Our data suggest that the quantification and the analysis of RBC membrane proteins may be helpful in predicting the clinical outcome of HS.

Mots clés: Medicine

Susana Rocha, Elísio Costa, Petronila Rocha-Pereira, Fátima Ferreira, Esmeralda Cleto, et al.. Erythrocyte membrane protein destabilization versus clinical outcome in 160 Portuguese Hereditary Spherocytosis patients. British Journal of Haematology, 2010, 149 (5), pp.785. ⟨10.1111/j.1365-2141.2010.08166.x⟩. ⟨hal-00552588⟩