From market access to gene therapy — all you need to know about this rare bleeding disorder
Haemophilia (or haemophilia in the UK) is a rare, largely genetic condition that impairs the body’s clotting factors. Most people are aware that haemophilia can cause excessive internal and external bleeding, but there are certain facts that medical nurses should be aware of. In this blog, we look to answer key questions, including:
Knowing the answers to these questions will help give you context and facilitate your ability to treat haemophiliac patients in the future.
Hemophilia is regularly referred to as a genetic condition, though this isn’t true in every single case. It has been shown that in 70% of haemophilia cases, there is a known family history. This accounts for 30% of haemophiliacs with no genetic history of hemophilia, which will be discussed below.
For the most part, haemophilia is caused by a genetic mutation. The type of mutation will determine whether the individual in question will experience symptoms that are mild, moderate, or severe.
Some families are shocked and confused when, as if out of nowhere, this bleeding disorder presents itself in a loved one. This can occur on rare occurrences as a result of spontaneous genetic mutation, which accounts for 30% of haemophilia cases. In instances such as these, the mother is not a carrier and the child is the first to carry the defective factor gene. Researchers currently aren’t sure why these mutations occur.
Haemophilia is nearly always caused by mutations in the X chromosome. For this reason, it has been referred to as an X-linked disorder. Other examples of X-linked disorders include red-green color blindness, Becker’s muscular dystrophy, and Alport syndrome.
Because men have both an X and Y chromosome, while women have two X chromosomes, men who possess the haemophilia mutation will acquire it. Women, on the other hand, aren’t likely to have the condition, because their second X chromosome makes up for any faults. However, women can act as carriers and pass the faulty gene down to their offspring. There is a 50% chance of a carrier passing haemophilia to their child.
The three main forms of haemophilia are:
Haemophilia A – Also known as ‘classic haemophilia’, this form of haemophilia is four times more common than haemophilia B and accounts for 80% of haemophilia cases. It is caused due to a lack of clotting factor VIII levels.
Haemophilia B – Otherwise known as ‘Christmas disease’, this form of haemophilia is caused due to a deficiency of clotting factor IX.
Haemophilia C – This form occurs as a result of a lack of clotting factor XI
Current statistics estimate that only 400,000 people worldwide are living with haemophilia, with the condition occurring approximately one time in every 5,000 male births. There is no evidence to suggest that any races or economic groups are impacted more than any other. As long as haemophiliac patients have access to treatment, they are expected to have a normal life expectancy.
An emerging treatment option for haemophilia is gene therapy, which has shown signs of great success in human patients. Gene therapy allows patients to be dosed with viruses containing the correct version of the defective gene. Treatments for patients with haemophilia B have been shown to improve factor IX activity to about 30% of average, which can make a tremendous difference to the life of a haemophiliac patient.
There are certain market access issues surrounding haemophilia. Firstly, we are not entirely sure how rare this rare bleeding disorder actually is. What we do know is that 75% of the haemophiliac patient population has limited access to treatment or no treatment at all. There are supply issues to keep in mind, as drug manufacturers aren’t able to properly estimate the number of haemophiliac patients and so can’t account for them.
India is a country that needs extra help with regard to haemophiliac patients. We know that there are only roughly 16,000 registered haemophiliac patients in India, but this contrasts hugely with the actual estimated haemophiliac patient population of over 54,000. Many Indians aren’t able to afford private health insurance and The Insurance Act in India doesn’t allocate allowances for individuals with pre-existing genetic disorders.
A significant market access challenge for haemophilia is making newer treatments affordable to patients. High costs mean these safer treatments aren’t a realistic option for many patients in developing countries. These market access issues are factors that need to be addressed, so that everyone who requires a particular drug or treatment can obtain it and go on to live a long, happy life.