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Red cell membrane protein abnormalities in hereditary spherocytosis in Brazil
Author(s) -
Saad Sara T. O.,
Costa Fernando F.,
L Dilmara,
Tereza Vicentim,
Salles S. I.,
Pranke Patricia H. L.
Publication year - 1994
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1994.tb05021.x
Subject(s) - hereditary spherocytosis , spherocytosis , erythrocyte membrane , medicine , red cell , red blood cell , immunology , biology , genetics , membrane , splenectomy , spleen
Summary. We studied 14 kindred and nine unrelated patients from southeastern Brazil with the typical form of hereditary spherocytosis. Diagnosis was made on the basis of clinical features, presence of spherocytes on the peripheral blood smears and an abnormal osmotic fragility test. By densitometric tracing of SDS‐PAGE stained by Coomassie blue, we detected isolated deficiency of spectrin in 39% of our patients, combined spectrin and ankyrion deficiency in 13% and deficiency of band 3 in 13%. One of our patients presented ankyrin deficiency without spectrin reduction. Our data suggest that, despite ethnic differences among the Brazilian and European or North‐American populations, these biochemical abnormalities in HS patients may be similar.