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Coexistence of hereditary spherocytosis (HS) due to band 3 deficiency and β‐thalassaemia trait: partial correction of HS phenotype
Author(s) -
Giudice Emanuele Miraglia del,
Perrotta Silverio,
Nobili Bruno,
Pinto Luciano,
Cutillo Luisa,
Iolascon Achille
Publication year - 1993
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.1365-2141.1993.tb03347.x
Subject(s) - hereditary spherocytosis , reticulocytosis , erythrocyte fragility , band 3 , spherocytosis , red cell , genetics , hemolytic anemia , beta thalassaemia , haemolysis , sickle cell trait , phenotype , biology , hemolysis , medicine , thalassemia , gene , anemia , immunology , membrane protein , splenectomy , spleen , disease , membrane
Summary. A kindred with hereditary spherocytosis and β‐thalassaemia trait was identified. Detailed studies of the red cell membrane proteins on polyacrylamide gels with sodium dodecyl sulphate (SDS‐PAGE) demonstrated the presence of band 3 (anion transporter) deficiency in all HS subjects (20–25% reduction) whereas spectrin content was in the normal range. The molecular defect of β thalassaemia in this kindred was due to a β° codon 39 (C‐T) mutation, as assessed by β globin gene amplification and ASO‐probe hybridization. Seven subjects of this family were studied: two were normal, two had HS alone, two co‐inherited HS and β‐thalassaemia trait, and one had β‐thalassaemia trait only. The two subjects with HS alone had a typical clinical form of spherocytosis with anaemia, reticulocytosis and increased red cell osmotic fragility. The two with both HS and β‐thalassaemia trait were not anaemic and showed a small, well‐compensated haemoIysis. Hence the finding of red cells with abnormalities of both HS and β‐thalassaemia indicates that β‐thalassaemic trait ‘silences’ HS caused by band 3 deficiency.