Haemophilia

The first description of haemophilia as an entity was in 1803 by John C. Otto.

Haemophilia or "hemophilia" is a disease in which the blood does not coagulate or coagulates only slowly.
It is divided into haemophilia A and haemophilia B.

In early Jewish writings from the 2nd century before Christ it is described that the third son of a family had received dispensation from circumcision because two other brothers had bled to death after circumcision. In the law of Rabbi Simon ben Gamafiel there is the prohibition to circumcise the son of a woman if the sons of the three older sisters died after circumcision.
Family accumulations of extremely pathological bleedings were already reported in Casuto by Hewson in 1791, by Kosbruch in 1793 and by Rave in 1810. However, these obviously did not go beyond mere description, with John C. Otto clearly recognizing the role of women as conductors.

The term haemophilia was coined by Schoenlein.
Haemophilia, or hemophilia as it was soon popularly called, although it is a rare disease, is present in the public consciousness because Queen Victoria of England was a conductor and her son Leopold, a haemophiliac, died at the age of 31 of a cerebral haemorrhage after an agonising life dominated by many bleeding episodes. His daughter Alice, who was born a year before his death, the later Princess of Teck, had a son who also suffered from haemophilia, Rupert Viscount Termerton, who also died of a brain haemorrhage at the age of 21.

The pedigree of this royal family has been very carefully evaluated and documented. Through marriage haemophilia came into the tsar family. The fate of Prince Alexis, born in 1904, was followed by the public with great sympathy. Through films and books related to the history of the Romanov family, the hemophilia was long surrounded by a special nimbus.
John C. Otto described families whose members were conspicuous by their heavy spontaneous bleeding. One hundred years later, it was recognized that there were two types of bleeding tendencies that could be distinguished, based on a lack of two different coagulation proteins.

In 1911, Addis demonstrated that plasma from healthy people shortened the coagulation time of hemophiliacs. Patek and Taylor called this activity "antihemophilic globulin".
Brinkhouse described this disorder as a plasma defect. In 1952, Aggeler and Biggs described that a deficiency in factors VIII and IX could be the cause of this disorder.

Hemophilic patients were differentiated by showing that the serum from one hemophiliac was unable to correct the defect of another hemophiliac, whereas it was possible with some hemophiliacs. A distinction was made between haemophilia A and B in these patients.
By synthesising the antibody against factor VIII, it was possible to distinguish haemophilia A from von Willebrand syndrome .

1. HA Neumann (2014) The coagulation system. ABW-Wissenschaftsverlag GmbH Berlin S. 164ff.