History of Hemophilia in Women
By Dr. David Clark
12/13/24
Where did the idea that hemophilia doesn’t affect women come from? Now we know. A group of Canadian hemophilia treaters has just published a study on the history of hemophilia in women. The culprit was a German physician named Christian Friedrich Nasse (1778 – 1851). In 1820, he published Nasse’s Law which states, “women of bleeding families, although they marry men from normal families, carry the disease over from their own fathers to their children, and yet never suffer from the disease themselves.” Not a hypothesis, not a conjecture, not a theory, but a full-blown law!
We can’t just blame Nasse, though. He has had plenty of support from his colleagues for 200 years. Reading this article is fascinating, but also depressing. It details 200 years of men’s arrogance and their prejudice against and mistrust of women. The article is open access (free) and easy for the lay person to read. See the reference at the end of this report.
The authors of the study identified nine different eras in the history, starting with the 1800s – 1920. Another physician, John Conrad Otto did write, ““when the cases shall become more numerous, it may perhaps be found that the female sex is not entirely exempt.” In 1886, we see the first report of an affected woman. That case was heavily disputed at the time and largely dismissed, but re-evaluation of the same patient 50 years later proved it to be correct.
By the 1920 – 1940 era, as knowledge of genetics increased, researchers realized that a woman with two affected X-chromosomes (homozygous) could have hemophilia and the race was on to find one. They looked at hemophilia families and found a lot of women with bleeding issues. However, the focus at the time seemed to be on preventing these women from having children rather than a concern for the women’s own health. Ostler’s 1935 textbook on medicine states, “The women of bleeder families should not marry or marrying, they should not bear children. Males may marry safely.”
Things started to get better in the 1940 – 1960 era when we could actually measure factor levels in patients, but there was still prejudice and mistrust against women. A 1956 article reported, “However, such women [from hemophilia families] are of course likely to be acutely aware of bleeding phenomena and may exaggerate otherwise unremarkable symptoms.” Maybe it’s the doctors who need to be made more aware of bleeding phenomena! Science advances, so prejudice has to take a new tack.
The article goes on through six more eras up until the present day. The story is slowly getting better, but the authors still report for the present day, “However in parallel with advances, we see other reports that females affected by hemophilia continue to be undertreated, experience ongoing symptom dismissal, have limited access to specialized care and are excluded from most major clinical trials.” Science doesn’t seem to be the problem here. [Chaigneau M et al., J Thromb Haemost, online ahead of print 12/13/24. The easiest way to find a copy is to use the DOI identifier. Just Google: “DOI:10.1016/j.jtha.2024.12.004”]