A Female Case of Hæmophilia

The history of haemophilia.

“…The rare occurrence of true haemophilia in the female is supposed first to have been described by Sir Frederick Treves in 1886, from a first-cousin marriage; his family was again studied by Handley andNussbrecher in 1935, Merskey in 1951(a), Valberg in 1959, Gilchrist in 1961 recently, by Kernoff and Rizza in 1973. My excuse for passing so quickly to the present century is of course that all the earlier history of haemophilia has been incomparably recorded by Bullock and Fildes. Their monumental monograph, published in 1911, is for students of haemophilia at once their Shakespeare for its drama and its human warmth, and their Bible for its towering authorityor at least, shall we say, their Old Testament, for in 1911 Bulloch and Fildes could really only deal with haemophilia clinically and genealogically, the Law and the Prophets so to speak; the Grace of laboratory diagnosis and blood product therapy could then be only dimly foreseen.…”

Haemorrhagic Disorders

“…The disorder is linked to the X chromosome and is therefore found in the male sex. Female cases have been described (Gilchrist, 1961) but are essentially curiosities, the result of a haemophiliac marrying a carrier female. Hensen (1965) postulates that the plasma Factor VIII level is controlled by 3 gene loci.…”