Living a Full Life with Haemophilia
Iris C F Gomes
Imagine losing your life from the most trivial of wounds, or suffering a fatal internal haemorrhage from the slightest bruise. This is the reality that many haemophiliacs could face every day if left without access to the right treatment and preventive measures. Fortunately, medical science has come a long way from a time when saving the sufferers of haemophilia was virtually impossible to allowing them to lead relatively normal lives.
Goa has been lagging in awareness about haemophilia, much to the detriment of haemophiliacs in the state. Hemophilia Society Panaji Chapter is registered in Goa under the Societies Registration Act and is doing its utmost to disseminate information regarding haemophilia. The Chapter has about 46 registered patients from Goa and from bordering areas of Maharashtra. The population of Goa suggests that there might be 200 plus people living with haemophilia. Most of these people are totally lacking in knowledge about this condition despite the fact that treatment is readily available at Goa Medical College.
The two common types of haemophilia are haemophilia A (also known as standard or classical haemophilia) and haemophilia B (also known as Christmas disease). Haemophiliacs bleed excessively because they lack a type of factor protein that will form a fibrin clot. It is this clotting factor that binds the platelets and blood cells to stop bleeding. In the case of haemophilia A it is factor VIII that is missing and in haemophilia B, factor IX is missing. The treatment differs depending on the type of haemophilia.
Tests are conducted to find out the platelet count, prothrombin time (PT) and activated partial thromboplastin time (aPTT). If the aPPT is abnormal as opposed to the platelet count and PT, it is a sign of haemophilia. Other tests to evaluate the clotting factor levels are performed to confirm the diagnosis.
The genes that cause haemophilia A and B are located in the X chromosome. It is usually men who are affected by this disease. It is estimated that around 1 male in every 5,000 is born with haemophilia A and around 1 in every 30,000 is born with haemophilia B. Women can be haemophiliacs, but rarely suffer from the severe form of the disease. A woman may be a carrier and not suffer from the disease. Anyone with less than 40% of the normal level of clotting factor is diagnosed as a haemophiliac. The severity of the disorder depends on the level of the clotting factor.
Bleeding episodes are mainly internal, and there can be bleeding into muscles, joints and organs which, if left untreated, could cause arthritis and extensive joint damage, requiring surgery, and even death.
Haemophilia is referred to sometimes as the ‘royal disease’ because Queen Victoria of England (1837-1901) is said to have been the carrier of haemophilia B. Her son Leopold died of a haemorrhage after a fall at the age of 30. Many of her grandchildren had the disease. Her grand-daughter Alix (Alexandra) married Tsar Nicholas of Russia, whose son Alexei had haemophilia.
Treatment for small cuts and injuries normally involves applying pressure on the wound with a bandage. Heavy bleeding externally or internally requires factor replacement therapy. The factor concentrate (in powder form) is mixed with a liquid and injected into a vein.
Haemophilia has a long history with accounts related to uncontrolled bleeding recorded in the early centuries of the last millennium. For example, in the writings of Jewish origin of the 2nd century AD, Rabbi Judah the Patriarch rules that the third son of any woman whose two elder sons had died due to bleeding from circumcision was exempt from circumcision. Another example is a description by Khalaf ibn Abbas (10th century AD) of the deaths of men in a particular village because of bleeding from the smallest of wounds.
While there is evidence for what is now known as haemophilia, or hemophilia (American English), in the past, conclusive findings were compiled and published in a paper by Dr John Conrad Otto of Philadelphia in 1803. He found that only male members of affected families showed symptoms of the disorder, whereas the women were carriers of the gene that caused it.
In the 1900s the life expectancy of a haemophiliac was 13 years. Blood transfusions, commonly from a relative because blood could not be stored, the use of the thyroid gland, bone marrow, gelatin, certain diluted snake venom, etc were different methods used to stem bleeding. By the late 1920s, plasma began being used. In 1937, Arthur Patek and FHL Taylor, two Harvard physicians wrote a paper on the anti-haemophilia globulin found in plasma that reduced clotting time. Fresh frozen plasma was administered via transfusions to patients by the late 1950s and early 1960s. However, a large amount of plasma was required since it did not contain enough of the clotting factor. This raised the age of survival to 20 years.
Dr Judith Graham Pool of Stanford University discovered in 1965 that the cryoprecipitate resulting from the thawing of plasma had a high amount of factor VIII and could be infused to treat haemophiliacs. The 70s saw factors (VIII and IX) produced as freeze-dried powder which allowed patients to treat themselves at home.
Although the rise of AIDS cases in the 1980s led to many haemophiliacs being infected and hepatitis C also was a major concern, the mandatory screening of blood put an end to the issues of transmission of deadly viruses.
In 1995, prophylaxis was introduced as preventative treatment for children. The 2000s brought in new recombinant factors without derivatives from animal and human plasma. This reduced the risk of adverse reactions.
Gene therapy, using viruses as vehicles to deliver the appropriate factor producing gene to the liver, provides hope for a cure or at least a lengthy reprieve from the disease. Liver transplants have been proven to successfully cure the disease as the liver is where the clotting factor is produced, but there is a high risk attached to it. Nevertheless, new forms of treatment are constantly being developed to help haemophiliacs lead more productive and fulfilled lives.
If you know people in Goa with signs of haemophilia, please encourage them to approach the Hemophilia Society Panaji Chapter for assistance.
C/O Mr. Prasad Arolkar
Gharkul H.no 922/19
Near Socorro Panchayat Porvorim Bardez