Congenital dysfibrinogenemia was found in a 60-year-old asymptomatic female and her daughter. Purified fibrinogen derived from the propositus, apparently a heterozygote for the abnormality, characteristically showed delayed but complete release of fibrinopeptide A upon digestion with thrombin but its defective release by Ancrod, a snake venom enzyme, from half of her fibrinogen molecules. This congenital dysfibrinogenemia with an A alpha arginine (Arg) to histidine (His) substitution was tentatively designated as fibrinogen Sapporo. Although this type of abnormal fibrinogen had been identified among Caucasians, no such cases have so far been reported in Japan.
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Congenital dysfibrinogenemia was found in a 60-year-old asymptomatic female and her daughter. Purified fibrinogen derived from the propositus, apparently a heterozygote for the abnormality, characteristically showed delayed but complete release of fibrinopeptide A upon digestion with thrombin but its defective release by Ancrod, a snake venom enzyme, from half of her fibrinogen molecules. This congenital dysfibrinogenemia with an A alpha arginine (Arg) to histidine (His) substitution was tentatively designated as fibrinogen Sapporo.
View Article and Find Full Text PDFClinical reports are published for only two patients with homozygously expressed congenital dysfibrinogenemia. The patients, both of whom have a bleeding diathesis, have amino acid substitutions in the fibrinogen molecule at A alpha 16 Arg----Cys and A alpha 19 Arg----Ser, respectively. We report that a third patient with dysfibrinogenemia (fibrinogen Giessen I) is homozygous for A alpha 16 Arg----His.
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