In connection with World Hemophilia Day on 17 April, we take a look at the basics of this disorder that can turn fatal due to lack of awareness.
What is hemophilia?
Hemophilia is a rare inherited disorder in which a person’s blood does not clot as fast as that of normal people because of lack of sufficient clotting proteins (factors).
What are the symptoms of hemophilia?
Symptoms of hemophilia range from increased bleeding after trauma, injury or surgery to sudden bleeding for no apparent reason. Hemophilia usually runs in families and usually affects males. Sometimes, a person gets a type that does not run in the family. This is called acquired hemophilia. It affects both males and females.
What causes hemophilia?
In hemophiliacs, the blood is lacking in specific proteins, also called as coagulation factors needed for normal clotting. The absence of this factor affects clotting time and how well it works.
What are the types of hemophilia?
Hemophilia can be of various types depending on the deficient protein:
Hemophilia A: Lack a protein called factor VIII
Hemophilia B: Lack a protein called factor IX
What are the treatment options available?
Historically, hemophiliacs were managed with blood or plasma transfusions alone.
The advent of factor replacement products derived from plasma in the 1970s from plasma donations improved treatment options. Sadly, use of plasma derived products were associated with transmission of blood borne viruses like HIV, HCV, etc. to the recipients. This led to the development of recombinant factor products (recombinant factor VIII and IX) that do not contain any donated human plasma.
How to recognise the bleed in inherited haemophilia?
Most children with hemophilia develop symptomatic bleeds in the first two years of life as they learn to crawl and walk. Bruises resulting from falls or bumps are common manifestations. Bleeding into joints and muscles are other common features that may start in the preschool years.
Bleeding into a joint can lead to swelling and redness in the joint. An infant may present with an inability to move an arm or leg because of bleeding. Bleeding in a muscle can manifest as bruising and painful swelling at the site.
What are the lifestyle modifications required for patients of haemophilia?
• Be active, but choose your activity with care
Exercises help keep the muscles and joints of hemophiliacs in good shape. Sports and activities that are deemed suitable for children with hemophilia include walking, swimming and tennis. Cycling can be allowed if protective gears like helmets are used.
• Look around your house and remove potential factors that may lead to falls or inadvertent injuries in kids
- Keep your rooms well lit
- Keep toys away from floors to reduce the potential of toppling over
- Avoid wet floors. Wipe away water spills immediately
- Use soft padding over sharp edges of furniture
Can some people be carriers of the disease?
A hemophilia carrier is a woman with one abnormal X chromosome carrying the mutation of the factor VIII or factor IX hemophilia gene, while her other X chromosome is normal. She has a decreased level of clotting factor VIII or IX. Mostly carriers are asymptomatic. However, some carriers may have bleeding problems.
Tell us about the risk to haemophilia patients from contaminated blood
During the 1970s and 80s, blood-borne infections like HIV, hepatitis B , Hepatitis C emerged as serious complications of treating hemophilia with plasma derived factor concentrates. These viruses contaminated the blood products directly from blood donors who were themselves infected. But with the advent of recombinant products, transmission of blood borne viruses in hemophiliacs have ceased to be a problem. They are currently the safest products available.
The author is a Consultant Paediatric Hemato-oncology, Institute of Child Health, Kolkata.