To determine how various inheritance patterns and responses to splenectomy relate to erythrocyte spectrin deficiencies in hereditary spherocytosis, we measured the spectrin content of erythrocytes by radioimmunoassay in 33 patients with this disease. Patients with the dominant form of hereditary spherocytosis generally had mild anemia, with spectrin at 63 to 81 percent of normal levels. Patients with the nondominant form of the disease had anemia ranging from severe to mild, with corresponding spectrin levels of 30 to 74 percent; their siblings were affected similarly. Distantly related homozygotes had different clinical severities with correspondingly different spectrin levels. The parents and offspring of patients with the nondominant form were clinically normal but consistently had subtle erythrocyte abnormalities. Spectrin levels in all patients were inversely related to osmotic fragility (P less than 0.0001), and they were also correlated with the clinical response to splenectomy: patients with spectrin levels above 70 percent achieved normal blood counts, those with levels of 40 to 70 percent had compensated hemolysis, and those with levels below 40 percent improved but remained anemic (P less than 0.0001). We conclude that the inheritance pattern and response to splenectomy in hereditary spherocytosis reflect erythrocyte spectrin deficiencies as determined by radioimmunoassay.
This article has been cited by other articles:
Mariani, M., Barcellini, W., Vercellati, C., Marcello, A. P., Fermo, E., Pedotti, P., Boschetti, C., Zanella, A.
(2008). Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect. haematol
93: 1310-1317
[Abstract][Full Text]
Wong, E. Y., Lin, J., Forget, B. G., Bodine, D. M., Gallagher, P. G.
(2004). Sequences Downstream of the Erythroid Promoter Are Required for High Level Expression of the Human {alpha}-Spectrin Gene. J. Biol. Chem.
279: 55024-55033
[Abstract][Full Text]
Boulanger, L., Sabatino, D. E., Wong, E. Y., Cline, A. P., Garrett, L. J., Garbarz, M., Dhermy, D., Bodine, D. M., Gallagher, P. G.
(2002). Erythroid Expression of the Human alpha -Spectrin Gene Promoter Is Mediated by GATA-1- and NF-E2-binding Proteins. J. Biol. Chem.
277: 41563-41570
[Abstract][Full Text]
Da Costa, L., Mohandas, N., Sorette, M., Grange, M.-J., Tchernia, G., Cynober, T.
(2001). Temporal differences in membrane loss lead to distinct reticulocyte features in hereditary spherocytosis and in immune hemolytic anemia. Blood
98: 2894-2899
[Abstract][Full Text]
Gallagher, P. G., Sabatino, D. E., Basseres, D. S., Nilson, D. M., Wong, C., Cline, A. P., Garrett, L. J., Bodine, D. M.
(2001). Erythrocyte Ankyrin Promoter Mutations Associated with Recessive Hereditary Spherocytosis Cause Significant Abnormalities in Ankyrin Expression. J. Biol. Chem.
276: 41683-41689
[Abstract][Full Text]
Wandersee, N. J., Lee, J. C., Kaysser, T. M., Bronson, R. T., Barker, J. E.
(1998). Hematopoietic Cells From alpha -Spectrin-Deficient Mice Are Sufficient to Induce Thrombotic Events in Hematopoietically Ablated Recipients. Blood
92: 4856-4863
[Abstract][Full Text]
Kaysser, T. M., Wandersee, N. J., Bronson, R. T., Barker, J. E.
(1997). Thrombosis and Secondary Hemochromatosis Play Major Roles in the Pathogenesis of Jaundiced and Spherocytic Mice, Murine Models for Hereditary Spherocytosis. Blood
90: 4610-4619
[Abstract][Full Text]
Hassoun, H., Vassiliadis, J.N., Murray, J., Njolstad, P.R., Rogus, J. J., Ballas, S.K., Schaffer, F., Jarolim, P., Brabec, V., Palek, J.
(1997). Characterization of the Underlying Molecular Defect in Hereditary Spherocytosis Associated With Spectrin Deficiency. Blood
90: 398-406
[Abstract][Full Text]
Previous
