World Haemophilia Day, 17 April 2014

Haemophilia is a relatively rare blood disorder that leads to abnormal bleeding. Although not very common, it is important for parents to be aware of this medical condition so they are able to identify it and have their children treated if necessary. There have been significant advances in the treatment of haemophilia recently, which is increasingly allowing patients to live normal lives.

As part of the Government Employees Medical Scheme's (GEMS) ongoing effort to educate our members and future members on a range of healthcare topics, we would like to explore certain important healthcare issues. This article looks at the subject of haemophilia this World Haemophilia Day, 17 April 2014.

What is haemophilia?
The blood of haemophiliacs does not clot properly and they tend to bleed easily after suffering even just minor cuts and abrasions. In more severe cases, people who suffer from haemophilia, or haemophiliacs, may even bleed internally. Haemophilia is an inherited blood disorder passed down via the mother who possesses a defective gene that she may pass on to her sons.
 
Girls are very rarely diagnosed with the condition, which is almost exclusively suffered by males. Sons of women who are identified as being ‘carriers' of haemophilia will have a 50% chance of being born with the condition. These female carriers may also pass on their carrier status to their daughters. Sometimes very mild forms of the condition are found in carriers.

Different types
There are three different types of haemophilia. Haemophilia A is by far the most common form of the condition and occurs in around 1 in 10 000 live male births. Haemophilia B and C are less common and are relatively rarely encountered. Haemophilia may range in seriousness from mild to severe. In mild cases the patient may only bleed badly when he suffers a trauma while in severe cases he may even bleed spontaneously. This is because those who have the more serious form of the disease have fewer clotting factors in their blood and they tend to bleed very easily. Not surprisingly, the severe patients are more difficult to treat than the mild cases.

In those patients who suffer spontaneous internal bleeding, it usually occurs in the joints and muscles. Repeated bleeding into the joints can cause them to become deformed and may even result in a patient becoming disabled. This is one of the reasons why it so important to identify and treat haemophilia at an early age.

Treatment

• Treatment of haemophilia is usually provided in the form of an infusion, which is given intravenously or via a drip. Infusions help the blood to clot better and to prevent uncontrolled bleeding.
• Haemophiliacs will have blood deficient or absent in certain factors. They will therefore be provided with the factors (i.e. Factor VIII or Factor IX) they require via the infusions. The infusions are usually obtained from donor blood although there is also a laboratory-derived form available today.
• It may be necessary for those haemophiliacs whose joints have become damaged from excessive bleeding to be prescribed painkillers and undergo surgery.

Medicines that can cause bleeding such as aspirin and nonsteroidal anti-inflammatories should be avoided at all costs.

Prevention
Women can be tested to see whether they are carriers of the condition and may opt not to have children if they feel it is a risk. Those women who have a family history of haemophilia may particularly wish to know if they have inherited the ‘carrier' genes.

What to watch out for
The condition is more difficult to spot in less severe cases. However, parents should seek medical attention if their child is bleeding and bruising severely from apparently minor wounds and bumps. It should be noted that bleeding is not easy to stop in those suffering from haemophilia.

Improving quality of life
While haemophilia cannot be completely healed and patients may need to avoid their rougher of boyish activities while they are growing up, treatment is helping sufferers to enjoy a vastly improved quality of life when compared to just a few years ago. This is true even for more severe cases. Doctors say that infusions are helping to cut down on hospital time and reduce joint deformity, and are allowing haemophiliacs to live regular lives.

Sources:
1. South African Haemophilia Foundation, http://www.haemophilia.org.za/
2. Medical News Today, http://www.medicalnewstoday.com/info/hemophilia/
3. Health24, www.health24.com/medical/Head2Toe/777-778-779,13623.asp