Hemophiliacs of Tenna and their descendants, 1650-1955
Moor-Jankowski, J.K.; Truog, G.; Huser, H.J.
Acta Genetica et Statistica Medica 7(4): 597-780
1957
ISSN/ISBN: 0567-7440 PMID: 13532417 Document Number: 9081
In our opinion, only a generalized tendency for bleeding with corresponding laboratory findings - similar to male hemophiliacs and homozygous female bleeders - may be considered as hemophilic disposition in heterozygous carriers, though its form will be slighter. In contrast to what was put forward by Deutsch (1954), we believe that a disposition to a single kind of bleeding such as menorrhagia, nose-bleeding, suffusions, etc. must not be considered as evidence for hemophilic bleeding tendencies, since such bleeding phenomena are wide-spread among normal people. Also, it seems hardly probable that the same gene which provokes the multiple types of bleeding in every case of hemophilia, should only cause the disposition to one single type of bleeding in heterozygous carriers. We would also warn against over-estimating the mere determination of coagulation time. This method not only involves a great number of hardly avoidable sources of error, but the coagulation time itself shows a large range of physiological variation. We can therefore not agree with HALDANE (1947), who considers the slight prolongation of the coagulation time in heterozygous females described by Andreassen (1943) as "physiological evidence" for the existente of the hemophilia gene and, what is more, employs this "evidence" for his calculations of the mutation rate of hemophilia. Nevertheless the reports of several authors referring to carriers with, partly, multiple bleeding phenomena should not be neglected. Any bleeding disposition in the heterozygous carriers among the Tenna Hemophiliacs with a medium-severe form of hemophilia B has now, with the methods available, been proved to be absent; clinical and coagulation tests should now also be carried out with hemophilic kindreds showing other forms of hemophilia.
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