Congenital Deficiency of Fibrin - stabilizing Factor
نویسندگان
چکیده
Four patients with congenital defiother family were found to have varyciency of fibrin-stabilizing factor (facing degrees of factor XIII deficiency. tor XIII) from two families have been The observations support the hypothedescribed. The mother and the sibs in sis of autosomal recessive inheritance one family and both parents in the of factor XIII deficiency. T HE EXISTENCE OF A BLOOD FACTOR that rendered clots prepared from purified fibrinogen insoluble in weak acid and urea was reported by Robbins’ in 1944. Laki and Lorand2 confirmed this observation in 1948 and designated this factor as the “fibrin-stabilizing factor.” In 1963, the International Committee on New Blood Clotting Factors accepted this entity as a distinct coagulation factor and gave it the designation factor XIII. Patients with factor XIII deficiency have a tendency to bleed and show poor wound healing. In these patients, the usual tests for blood coagulation give normal results except for a considerable degree of crumbling of the clot and a striking diminution of the amplitude of the thromboelastogram.3 The diagnosis is confirmed by the rapid dissolution of the clot obtained by recalcification of the plasma in a 5 M urea or a 1% monochioroacetic acid solution. The factor XIII deficiency has been documented in at least 44 individuals from 27 families,3 including a single case from Pakistan reported by Zahir4 from this laboratory. In this communication, four additional cases of bleeding disorders associated with the fibrin-stabilizing factor (factor XIII) deficiency from two families will be reported.
منابع مشابه
Factor XIII deficiency: a review of literature
Coagulaon factor XIII gene, protein structure and funcon Coagulaon factor XIII (FXIII) is a tetrameric (FXIII- A2B2) pro-transglutaminase enzyme with an essenal role in the final stage of coagulaon cascade by cross linking the fibrin monomers and stabilizing the fibrin clot. Congenital FXIII deficiency is a rare bleeding disorder, with an autosomal recessive trait inheritance, and a fre...
متن کاملThe effect of fibrin-stabilizing factor on the subunit structure of human fibrin.
The formation of human fibrin from fibrinogen has been examined by polyacrylamide gel electrophoresis in sodium dodecyl sulfate, a method which separates a mixture of proteins on the basis of differences in molecular weight. It has been found that the plasma from a patient with a congenital deficiency of fibrin-stabilizing factor forms clots lacking the cross links among the alpha- and gammacha...
متن کامل[Congenital deficiency of fibrin stabilizing factor [factor XIII)].
The authors report a new case of congenital deficiency of fibrin stabilizing factor. The defect is transmitted as an autosomal recessive trait. The earliest symptom is umbilical bleeding when the cord separates. The diagnosis is confirmed by the rapid dispersion of the clot in urea 5 M or monochloroacetic acid.
متن کاملCongenital deficiency of fibrin-stabilizing factor (factor XIII): a report of four cases (two families) and family members.
Four patients with congenital defiother family were found to have varyciency of fibrin-stabilizing factor (facing degrees of factor XIII deficiency. tor XIII) from two families have been The observations support the hypothedescribed. The mother and the sibs in sis of autosomal recessive inheritance one family and both parents in the of factor XIII deficiency. T HE EXISTENCE OF A BLOOD FACTOR th...
متن کامل