Erblichkeitsprobleme bei der Blutkoagulierung

Abstract

SUMMARYThe Author reports on genetic problems of blood coagulation. Recent haematological reports on haemophilia, as for instance the differentiation of haemophilia into two different types (haemophilia A and B) bring up the question of the interrelations lig between the two genes responsible for the two types. The problem of recognizing female carriers is mentioned as well as the question of existence of female hemoghilian. It is pointed to further recent haemorrhagic diathese of genetic importance, PTA deficiency as well as the Hageman factor deficiency. Comprehensive investigations of factor VII deficiency on families, in Switzerland are of special genetic interest. These investigations have shown, that in those families, patients with complete deficiency of these factors are found, as well as members of the family not showing any haemorrhagic tendency being in complete health, but a quantitative deficiency of factor VII or Stuart-Power factor can be proved. A third group of members of these families is known to be healthy, showing a normal level of these coagulation factors. Healthy persons with a certain deficiency of factor VII or Stuart-Power factor can be regarded as heterozygotes.