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Erblichkeitsprobleme bei der Blutkoagulierung

Published online by Cambridge University Press:  01 August 2014

Wolfgang Lehmann
Wolfgang Lehmann*
Affiliation:
Kiel

Summary

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The 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.

Sommario

SOMMARIO

Si parla di problemi genetici connessi con la coagulazione del sangue. Recenti reperti ematologici relativi all'emofilia, come p. es. la differenziazione dell'emofilia in due forme (emofilia A e B), sollevano la questione della posizione dei geni, in relazione gli uni agli altri, che stanno alla base di queste due forme. Si entra anche in merito al problema del riconoscimento delle conduttrici nonchè a quello dell'esistenza di genuini soggetti emofiliaci femminili. Si accenna pure a ulteriori, recenti diatesi emorragiche geneticamente importanti, come la mancanza di PTA e del fattore Hageman. Di particolare interesse bio-ereditario sono vaste ricerche condotte nella Svizzera su famiglie con mancanza del fattore VII ovvero del fattore Stuart-Prower. Queste ricerche hanno mostrato che in tali famiglie, accanto a malati con una mancanza quasi completa di questi fattori, ci sono anche membri di tali famiglie che non mostrano alcuna predisposizione all'emorragia e sono perfettamente sani, ma in cui tuttavia si può dimostrare, quantitativamente, una certa mancanza del fattore VII ovvero del fattore Stuart-Prower. Un terzo gruppo di membri di tali famiglie, poi, sono sani e hanno un normale contenuto di questi fattori coagulanti. Le persone sane con una certa diminuzione del fattore VII ovvero del fattore Stuart-Prower possono essere considerate quali eterozigoti.

Résumé

RÉSUMÉ

On étudie des problèmes génétiques survenant à l'occasion de la coagulation du sang. De récentes constatations ayant trait à l'hémophilie comme par exemple la différentiation de l'hémiophilie en deux formes (hémophilie A et B) soulèvent la question de la relation des gènes qui sont à la base de ces deux formes. Le problème de déceler des conductrices aussi bien que la question de l'existence de vraies hémophilies féminines sont discutés. On fait également allusion à d'autres récentes diathèses hémorragiques qui sont importantes du point de vue génétique comme la déficience de PTA et du facteur Hageman. D'un intérêt spécialement bio-héréditaire sont d'amples examens en Suisse dans des familles où une déficience du facteur VII respectivement du facteur Stuart-Prower est observée. Les examens dans ces familles ont révélé d'une part des membres malades qui font presque absolument défaut de ces facteurs mais d'autre part des membres qui ne montrent aucune prédisposition aux hémorragies étant complètement sains mais qui révèlent une certaine diminuation quantitative du facteur VII respectivement du facteur Stuart-Prower. Un troisième groupe est sain et dispose d'une teneur normale de ces facteurs coagulants. Les personnes saines qui montrent une certaine diminution du facteur VII respectivement du facteur Stuart-Prower peuvent être considérées comme des personnes hétérozygotes.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 8 , supplement S2 , January 1959 , pp. 26 - 37
Copyright
Copyright © The International Society for Twin Studies 1959

References

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