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A Familial Abnormality of Circulating Vitamin B 12 Binding Proteins: Occurrence in a Family of High Serum Concentrations of Transcobalamin II
Author(s) -
Kane S. P.,
Hoffbrand A. V.,
Allen R. H.,
Neale G.
Publication year - 1976
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.1365-2141.1976.tb03536.x
Subject(s) - chemistry , vitamin , vitamin d binding protein , antibody , medicine , endocrinology , biochemistry , microbiology and biotechnology , immunology , biology
S ummary . A family is described in which two members (a father and daughter), both with quiescent ulcerative colitis, had abnormally high serum concentrations of a vitamin B 12 binding protein. This protein had the molecular weight of transcobalamin II on gel filtration, and behaved like transcobalamin II with respect to its elution from DE‐23 cellulose, its inhibition at acid pH, its absorption by uncoated charcoal, its binding by anti‐TC II antibodies, and its ability to transfer vitamin B 12 to transformed lymphocytes. Its plasma clearance and tissue distribution when injected into rabbits was indistinguishable from that of transcobalamin II from normal subjects. It migrated on electrophoresis in the βγ region. This is the first case report of related subjects in whom high serum concentrations of transcobalamin II have been observed.