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A Genetic Variant of Factor IX with Decreased Capacity for Ca 2+ Binding
Author(s) -
Bertina R. M.,
Veltkamp J. J.
Publication year - 1979
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.1365-2141.1979.tb01175.x
Subject(s) - factor ix , proband , haemophilia b , chemistry , microbiology and biotechnology , haemophilia , medicine , haemophilia a , biochemistry , genetics , biology , gene , mutation
S ummary . A genetic variant of factor IX is described that behaves identically to PIVKA IX (the precursor factor IX molecule induced by the absence of vitamin K or presence of vitamin K antagonists, acarboxy factor IX). It shows an increased electrophoretic mobility in the presence of Ca 2+ , a low affinity for adsorption to A1(OH) 3 and a very low specific coagulant activity. This variant of factor IX has been demonstrated in the plasma of a patient with severe haemophilia B and in the plasmas of a number of possible carriers from the probands’ pedigree.