Fibrinogen Kiel: a congenital dysfibrinogenaemia with (A alpha-16 Arg----His) substitution characterized by HPLC without prior isolation of fibrinogen.
A congenital fibrinogen variant in a German family is described which has been identified as a substitution of His in position 16 of the A alpha-chain for Arg, manifested over three generations in heterozygous form. The characterization is based on the reaction of the variant fibrinogen with thrombin and reptilase, on the HPLC-chromatographic properties and the amino acid composition of the abnormal fibrinopeptide A. Clinical observations in the affected family members (neither haemorrhagic nor thrombophilic tendencies), the results of routine coagulation tests (normal global clotting tests, prolonged thrombin and thrombin-coagulase time, decreased fibrinogen concentration in functional as opposed to immunological tests), and the autosomal co-dominant modus of inheritance of the fibrinogen variant are all in complete agreement with other reports in the literature concerning the same amino acid exchange. The results of our experiments with fibrinogen Kiel allow no definite conclusion regarding the question of whether it consists of pure homodimers or as of a mixture of homo- and heterodimers.
Seydewitz
H H
HH
Biochemistry Laboratory, Children's Hospital, University of Freiburg, Germany.
Gram
J
J
Bruhn
H D
HD
Witt
I
I
D000596:Amino Acids / Q000032:analysis; D001120:Arginine; D001778:Blood Coagulation Disorders / Q000097:blood* / Q000235:genetics; D002851:Chromatography, High Pressure Liquid; D003030:Coagulase / Q000378:metabolism; D015241:Fibrinogens, Abnormal / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism; D005344:Fibrinopeptide A / Q000032:analysis / Q000378:metabolism; D006639:Histidine; D006801:Humans; D046911:Macromolecular Substances; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013918:Thrombin Time
D000596:Amino Acids; D003030:Coagulase; D015241:Fibrinogens, Abnormal; D046911:Macromolecular Substances; C072461:fibrinogen Kiel; D005344:Fibrinopeptide A; D006639:Histidine; D001120:Arginine