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A correlation between thrombotic disease and a specific fibrinogen
abnormality (A alpha 554 Arg-->Cys) in two unrelated kindred, Dusart and
Chapel Hill III
Y Wada and ST Lord
Department of Pathology, Center for Thrombosis and Hemostasis, University
of North Carolina at Chapel Hill, Chapel Hill 27599.
For the first time, a correlation between a specific fibrinogen abnormality
and the clinical symptoms of thrombosis has been found in unrelated
families. These abnormal fibrinogens have been designated Dusart and Chapel
Hill III. The abnormal fibrinogen Chapel Hill III was identified previously
in a patient with thrombotic disease. We purified fibrinogen from small
aliquots of patient and normal plasmas by a simple, rapid procedure.
Coomassie stained sodium dodecyl sulfate- polyacrylamide gel
electrophoresis (SDS-PAGE) analysis demonstrated that fibrinogen Chapel
Hill III contained several high molecular weight forms in addition to the
two forms seen with normal fibrinogen. Immunoblot analysis of Chapel Hill
III fibrinogen demonstrated that essentially all the high molecular weight
forms react with antiserum to albumin. Immunoblot analysis of plasmin
digests of Chapel Hill III fibrinogen demonstrated that albumin is linked
to the C-terminus of the A alpha chain. Using DNA analysis, we found that
the patient is heterozygous for a single base change, resulting in the
substitution A alpha Arg 554-->Cys. This is the same change identified
in fibrinogen Dusart. The Dusart family members who are heterozygous for
this substitution also suffer from recurrent thrombotic disorders.
Volume 84,
Issue 11,
pp. 3709-3714,
12/01/1994
Copyright © 1994 by The American Society of Hematology
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