Christmas Disease has nothing to do with Christianity, Santa, mangers, three
wise men and a bottle of myrrh. But it has everything to do with Stephen. And
not St. Stephen but Stephen Christmas, that is.
Stephen, a young British lad, was the first patient with a
bleeding tendency recognized to have a different form from “classical”
haemophilia (or hemophilia if you come from the right hand side of the Pacific
Ocean).
His condition was studied by researchers Biggs, Douglas, and
Macfarlane in 1952, who discovered that young Stephen was missing a different
coagulation factor than the more usual one (which is known as Factor VIII). They
named Stephen’s missing factor as Factor IX, and his condition became known as
Christmas Disease.
Just to confuse the issue, we also call Christmas Disease by
other names, including Factor IX deficiency, haemophilia II, haemophilia B,
haemophiloid state C, hereditary plasma thromboplastin component deficiency,
plasma thromboplastin component deficiency, and plasma thromboplastin factor-B
deficiency. There’s probably more, but Christmas Disease has a much nicer “ring”
to it. (Probably “Jingle Bells” at this time of year!)
From the diagnostic viewpoint, it is very difficult to
differentiate between classical haemophilia and Christmas Disease. The symptoms
are the same, with excessive bleeding seen by recurrent nosebleeds, bruising,
spontaneous bleeding, bleeding into joints and associated pain and swelling,
gastrointestinal tract and urinary tract haemorrhage producing blood in the
urine or stool, prolonged bleeding from cuts, tooth extraction, and surgery and
excessive bleeding following circumcision.
Christmas Disease covers around one in seven cases of the
total haemophilia incidence and is around 1/30,000 in the general population.
This disease is also male dominated, being called a sex-linked recessive trait
passed on by female carriers. This means the bleeding disorder is carried on the
X chromosome. Males being of XY make-up will have the disease if the X they
inherit has the gene. Females, who have XX chromosomes, are only carriers if
either X has the bleeding gene.
Haemophilia has been noted in history for many years, and
Jewish texts of the second century A.D. refer to boys who bled to death after
circumcision, and the Arab physician Albucasis (1013-1106) also described males
in one family dying after minor injuries.
In more recent history, royal watchers know that Queen
Victoria of Britain’s son Leopold had haemophilia, and that two of her
daughters, Alice and Beatrice, were carriers of the gene. Through them,
haemophilia was passed to the royal families in Spain and Russia, leading to one
of the most famous young men with the disease, Tsar Nicholas II’s only son
Alexei.
In the 1800s physicians thought that the bleeding occurred
because of a structural problem in blood vessels. In 1937 a substance was found
in normal blood that would make haemophilic blood clot, which was named
“anti-haemophilic globulin.”
In 1944 researchers found in one case that when the blood
from two different haemophiliacs was mixed, both were able to clot. Nobody could
explain this until 1952, when the researchers in England realized there were two
types of haemophilia. They called his version haemophilia B, or “Christmas
disease,” and the more prevalent kind haemophilia A, or “classic haemophilia”.
With the discovery of A and B types came the realization that
there must be different types of “anti-haemophilic globulin” involved in the
clotting process. Names were assigned to these various “coagulation factors” by
an international committee in 1962. Haemophilia A is a deficiency of Factor
VIII, and haemophilia B is a deficiency of Factor IX.
Once it became clear that haemophilia was caused by a
deficiency of a coagulation factor, replacement of the missing factor became the
method of treatment. In the early 1950s animal plasma was used. By the 1970s,
coagulation factor concentrates made from human plasma were available, and by
the 1980’s we could guarantee that it was HIV free. It has been a long road
since Stephen Christmas.
Last minute reminder!
The 50 percent discount for check-up packages at Bangkok
Hospital Pattaya has to be paid for by December 31. You can delay having the
test up till February 28, 2011.
